SNP Links for Protein (Select 375493589) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 92

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Select item 14895967951.

rs1489596795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:145064581 (GRCh38)
4:145985733 (GRCh37)
Canonical SPDI:: NC_000004.12:145064580:T:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145064581T>C, NC_000004.11:g.145985733T>C, NM_014885.5:c.318A>G, NM_014885.4:c.318A>G, XM_017007639.3:c.420A>G, XM_017007639.2:c.420A>G, XM_017007639.1:c.420A>G, XM_011531525.3:c.318A>G, XM_011531525.2:c.432A>G, XM_011531525.1:c.432A>G, XM_017007641.2:c.420A>G, XM_017007641.1:c.420A>G, NM_001256708.2:c.318A>G, NM_001256708.1:c.318A>G, NM_001256709.2:c.351A>G, NM_001256709.1:c.351A>G, NM_001256711.2:c.318A>G, NM_001256711.1:c.318A>G, XM_017007642.2:c.351A>G, XM_017007642.1:c.351A>G, NM_001256707.2:c.318A>G, NM_001256707.1:c.318A>G, NM_001318367.2:c.420A>G, NM_001318367.1:c.420A>G, NM_001256710.2:c.318A>G, NM_001256710.1:c.318A>G, NM_001256706.2:c.318A>G, NM_001256706.1:c.318A>G, XM_047449505.1:c.318A>G, XM_047449506.1:c.420A>G, XM_047449502.1:c.420A>G, XM_047449504.1:c.351A>G, XM_047449503.1:c.351A>G

Select item 14885705032.

rs1488570503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:145096031 (GRCh38)
4:146017183 (GRCh37)
Canonical SPDI:: NC_000004.12:145096030:C:T
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.145096031C>T, NC_000004.11:g.146017183C>T, NG_047075.1:g.3028C>T, NM_014885.5:c.69G>A, NM_014885.4:c.69G>A, XM_011531531.4:c.69G>A, XM_011531531.3:c.183G>A, XM_011531531.2:c.183G>A, XM_011531531.1:c.183G>A, XM_017007639.3:c.171G>A, XM_017007639.2:c.171G>A, XM_017007639.1:c.171G>A, XM_011531525.3:c.69G>A, XM_011531525.2:c.183G>A, XM_011531525.1:c.183G>A, XM_017007641.2:c.171G>A, XM_017007641.1:c.171G>A, NM_001256708.2:c.69G>A, NM_001256708.1:c.69G>A, NM_001256709.2:c.102G>A, NM_001256709.1:c.102G>A, NM_001256711.2:c.69G>A, NM_001256711.1:c.69G>A, XM_017007642.2:c.102G>A, XM_017007642.1:c.102G>A, NM_001256707.2:c.69G>A, NM_001256707.1:c.69G>A, NM_001318367.2:c.171G>A, NM_001318367.1:c.171G>A, NM_001256710.2:c.69G>A, NM_001256710.1:c.69G>A, NM_001256706.2:c.69G>A, NM_001256706.1:c.69G>A, NM_001256712.2:c.69G>A, NM_001256712.1:c.69G>A, XM_047449505.1:c.69G>A, XM_047449506.1:c.171G>A, XM_047449502.1:c.171G>A, XM_047449504.1:c.102G>A, XM_047449507.1:c.171G>A, XM_047449503.1:c.102G>A

Select item 14855704853.

rs1485570485 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:145081669 (GRCh38)
4:146002822 (GRCh37)
Canonical SPDI:: NC_000004.12:145081669:T:TT
Gene:: ANAPC10 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145081670dup, NC_000004.11:g.146002822dup, NM_014885.5:c.196dup, NM_014885.4:c.196dup, XM_011531531.4:c.196dup, XM_011531531.3:c.310dup, XM_011531531.2:c.310dup, XM_011531531.1:c.310dup, XM_017007639.3:c.298dup, XM_017007639.2:c.298dup, XM_017007639.1:c.298dup, XM_011531525.3:c.196dup, XM_011531525.2:c.310dup, XM_011531525.1:c.310dup, XM_017007641.2:c.298dup, XM_017007641.1:c.298dup, NM_001256708.2:c.196dup, NM_001256708.1:c.196dup, NM_001256709.2:c.229dup, NM_001256709.1:c.229dup, NM_001256711.2:c.196dup, NM_001256711.1:c.196dup, XM_017007642.2:c.229dup, XM_017007642.1:c.229dup, NM_001256707.2:c.196dup, NM_001256707.1:c.196dup, NM_001318367.2:c.298dup, NM_001318367.1:c.298dup, NM_001256710.2:c.196dup, NM_001256710.1:c.196dup, NM_001256706.2:c.196dup, NM_001256706.1:c.196dup, NM_001256712.2:c.196dup, NM_001256712.1:c.196dup, XM_047449505.1:c.196dup, XM_047449506.1:c.298dup, XM_047449502.1:c.298dup, XM_047449504.1:c.229dup, XM_047449507.1:c.298dup, XM_047449503.1:c.229dup, NR_046345.1:n.181dup, NP_055700.2:p.Ile66fs, XP_011529833.2:p.Ile66fs, XP_016863128.1:p.Ile100fs, XP_011529827.2:p.Ile66fs, XP_016863130.1:p.Ile100fs, NP_001243637.1:p.Ile66fs, NP_001243638.1:p.Ile77fs, NP_001243640.1:p.Ile66fs, XP_016863131.1:p.Ile77fs, NP_001243636.1:p.Ile66fs, NP_001305296.1:p.Ile100fs, NP_001243639.1:p.Ile66fs, NP_001243635.1:p.Ile66fs, NP_001243641.1:p.Ile66fs, XP_047305461.1:p.Ile66fs, XP_047305462.1:p.Ile100fs, XP_047305458.1:p.Ile100fs, XP_047305460.1:p.Ile77fs, XP_047305463.1:p.Ile100fs, XP_047305459.1:p.Ile77fs

Select item 14787769744.

rs1478776974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:145096085 (GRCh38)
4:146017237 (GRCh37)
Canonical SPDI:: NC_000004.12:145096084:G:A
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.145096085G>A, NC_000004.11:g.146017237G>A, NG_047075.1:g.3082G>A, NM_014885.5:c.15C>T, NM_014885.4:c.15C>T, XM_011531531.4:c.15C>T, XM_011531531.3:c.129C>T, XM_011531531.2:c.129C>T, XM_011531531.1:c.129C>T, XM_017007639.3:c.117C>T, XM_017007639.2:c.117C>T, XM_017007639.1:c.117C>T, XM_011531525.3:c.15C>T, XM_011531525.2:c.129C>T, XM_011531525.1:c.129C>T, XM_017007641.2:c.117C>T, XM_017007641.1:c.117C>T, NM_001256708.2:c.15C>T, NM_001256708.1:c.15C>T, NM_001256709.2:c.48C>T, NM_001256709.1:c.48C>T, NM_001256711.2:c.15C>T, NM_001256711.1:c.15C>T, XM_017007642.2:c.48C>T, XM_017007642.1:c.48C>T, NM_001256707.2:c.15C>T, NM_001256707.1:c.15C>T, NM_001318367.2:c.117C>T, NM_001318367.1:c.117C>T, NM_001256710.2:c.15C>T, NM_001256710.1:c.15C>T, NM_001256706.2:c.15C>T, NM_001256706.1:c.15C>T, NM_001256712.2:c.15C>T, NM_001256712.1:c.15C>T, XM_047449505.1:c.15C>T, XM_047449506.1:c.117C>T, XM_047449502.1:c.117C>T, XM_047449504.1:c.48C>T, XM_047449507.1:c.117C>T, XM_047449503.1:c.48C>T

Select item 14746404745.

rs1474640474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:144999284 (GRCh38)
4:145920436 (GRCh37)
Canonical SPDI:: NC_000004.12:144999283:G:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.144999284G>C, NC_000004.11:g.145920436G>C, NM_001256711.2:c.338C>G, NM_001256711.1:c.338C>G, NM_001256710.2:c.338C>G, NM_001256710.1:c.338C>G, NP_001243640.1:p.Ser113Ter, NP_001243639.1:p.Ser113Ter

Select item 14670627146.

rs1467062714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:145095999 (GRCh38)
4:146017151 (GRCh37)
Canonical SPDI:: NC_000004.12:145095998:G:A
Gene:: ANAPC10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.145095999G>A, NC_000004.11:g.146017151G>A, NG_047075.1:g.2996G>A, NM_014885.5:c.101C>T, NM_014885.4:c.101C>T, XM_011531531.4:c.101C>T, XM_011531531.3:c.215C>T, XM_011531531.2:c.215C>T, XM_011531531.1:c.215C>T, XM_017007639.3:c.203C>T, XM_017007639.2:c.203C>T, XM_017007639.1:c.203C>T, XM_011531525.3:c.101C>T, XM_011531525.2:c.215C>T, XM_011531525.1:c.215C>T, XM_017007641.2:c.203C>T, XM_017007641.1:c.203C>T, NM_001256708.2:c.101C>T, NM_001256708.1:c.101C>T, NM_001256709.2:c.134C>T, NM_001256709.1:c.134C>T, NM_001256711.2:c.101C>T, NM_001256711.1:c.101C>T, XM_017007642.2:c.134C>T, XM_017007642.1:c.134C>T, NM_001256707.2:c.101C>T, NM_001256707.1:c.101C>T, NM_001318367.2:c.203C>T, NM_001318367.1:c.203C>T, NM_001256710.2:c.101C>T, NM_001256710.1:c.101C>T, NM_001256706.2:c.101C>T, NM_001256706.1:c.101C>T, NM_001256712.2:c.101C>T, NM_001256712.1:c.101C>T, XM_047449505.1:c.101C>T, XM_047449506.1:c.203C>T, XM_047449502.1:c.203C>T, XM_047449504.1:c.134C>T, XM_047449507.1:c.203C>T, XM_047449503.1:c.134C>T, NP_055700.2:p.Ser34Leu, XP_011529833.2:p.Ser34Leu, XP_016863128.1:p.Ser68Leu, XP_011529827.2:p.Ser34Leu, XP_016863130.1:p.Ser68Leu, NP_001243637.1:p.Ser34Leu, NP_001243638.1:p.Ser45Leu, NP_001243640.1:p.Ser34Leu, XP_016863131.1:p.Ser45Leu, NP_001243636.1:p.Ser34Leu, NP_001305296.1:p.Ser68Leu, NP_001243639.1:p.Ser34Leu, NP_001243635.1:p.Ser34Leu, NP_001243641.1:p.Ser34Leu, XP_047305461.1:p.Ser34Leu, XP_047305462.1:p.Ser68Leu, XP_047305458.1:p.Ser68Leu, XP_047305460.1:p.Ser45Leu, XP_047305463.1:p.Ser68Leu, XP_047305459.1:p.Ser45Leu

Select item 14382050907.

rs1438205090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:145064656 (GRCh38)
4:145985808 (GRCh37)
Canonical SPDI:: NC_000004.12:145064655:T:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145064656T>C, NC_000004.11:g.145985808T>C, NM_014885.5:c.243A>G, NM_014885.4:c.243A>G, XM_017007639.3:c.345A>G, XM_017007639.2:c.345A>G, XM_017007639.1:c.345A>G, XM_011531525.3:c.243A>G, XM_011531525.2:c.357A>G, XM_011531525.1:c.357A>G, XM_017007641.2:c.345A>G, XM_017007641.1:c.345A>G, NM_001256708.2:c.243A>G, NM_001256708.1:c.243A>G, NM_001256709.2:c.276A>G, NM_001256709.1:c.276A>G, NM_001256711.2:c.243A>G, NM_001256711.1:c.243A>G, XM_017007642.2:c.276A>G, XM_017007642.1:c.276A>G, NM_001256707.2:c.243A>G, NM_001256707.1:c.243A>G, NM_001318367.2:c.345A>G, NM_001318367.1:c.345A>G, NM_001256710.2:c.243A>G, NM_001256710.1:c.243A>G, NM_001256706.2:c.243A>G, NM_001256706.1:c.243A>G, XM_047449505.1:c.243A>G, XM_047449506.1:c.345A>G, XM_047449502.1:c.345A>G, XM_047449504.1:c.276A>G, XM_047449503.1:c.276A>G

Select item 14374618278.

rs1437461827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:145081692 (GRCh38)
4:146002844 (GRCh37)
Canonical SPDI:: NC_000004.12:145081691:A:G
Gene:: ANAPC10 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.145081692A>G, NC_000004.11:g.146002844A>G, NM_014885.5:c.174T>C, NM_014885.4:c.174T>C, XM_011531531.4:c.174T>C, XM_011531531.3:c.288T>C, XM_011531531.2:c.288T>C, XM_011531531.1:c.288T>C, XM_017007639.3:c.276T>C, XM_017007639.2:c.276T>C, XM_017007639.1:c.276T>C, XM_011531525.3:c.174T>C, XM_011531525.2:c.288T>C, XM_011531525.1:c.288T>C, XM_017007641.2:c.276T>C, XM_017007641.1:c.276T>C, NM_001256708.2:c.174T>C, NM_001256708.1:c.174T>C, NM_001256709.2:c.207T>C, NM_001256709.1:c.207T>C, NM_001256711.2:c.174T>C, NM_001256711.1:c.174T>C, XM_017007642.2:c.207T>C, XM_017007642.1:c.207T>C, NM_001256707.2:c.174T>C, NM_001256707.1:c.174T>C, NM_001318367.2:c.276T>C, NM_001318367.1:c.276T>C, NM_001256710.2:c.174T>C, NM_001256710.1:c.174T>C, NM_001256706.2:c.174T>C, NM_001256706.1:c.174T>C, NM_001256712.2:c.174T>C, NM_001256712.1:c.174T>C, XM_047449505.1:c.174T>C, XM_047449506.1:c.276T>C, XM_047449502.1:c.276T>C, XM_047449504.1:c.207T>C, XM_047449507.1:c.276T>C, XM_047449503.1:c.207T>C, NR_046345.1:n.159T>C

Select item 14374286529.

rs1437428652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:145064624 (GRCh38)
4:145985776 (GRCh37)
Canonical SPDI:: NC_000004.12:145064623:C:T
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.145064624C>T, NC_000004.11:g.145985776C>T, NM_014885.5:c.275G>A, NM_014885.4:c.275G>A, XM_017007639.3:c.377G>A, XM_017007639.2:c.377G>A, XM_017007639.1:c.377G>A, XM_011531525.3:c.275G>A, XM_011531525.2:c.389G>A, XM_011531525.1:c.389G>A, XM_017007641.2:c.377G>A, XM_017007641.1:c.377G>A, NM_001256708.2:c.275G>A, NM_001256708.1:c.275G>A, NM_001256709.2:c.308G>A, NM_001256709.1:c.308G>A, NM_001256711.2:c.275G>A, NM_001256711.1:c.275G>A, XM_017007642.2:c.308G>A, XM_017007642.1:c.308G>A, NM_001256707.2:c.275G>A, NM_001256707.1:c.275G>A, NM_001318367.2:c.377G>A, NM_001318367.1:c.377G>A, NM_001256710.2:c.275G>A, NM_001256710.1:c.275G>A, NM_001256706.2:c.275G>A, NM_001256706.1:c.275G>A, XM_047449505.1:c.275G>A, XM_047449506.1:c.377G>A, XM_047449502.1:c.377G>A, XM_047449504.1:c.308G>A, XM_047449503.1:c.308G>A, NP_055700.2:p.Ser92Asn, XP_016863128.1:p.Ser126Asn, XP_011529827.2:p.Ser92Asn, XP_016863130.1:p.Ser126Asn, NP_001243637.1:p.Ser92Asn, NP_001243638.1:p.Ser103Asn, NP_001243640.1:p.Ser92Asn, XP_016863131.1:p.Ser103Asn, NP_001243636.1:p.Ser92Asn, NP_001305296.1:p.Ser126Asn, NP_001243639.1:p.Ser92Asn, NP_001243635.1:p.Ser92Asn, XP_047305461.1:p.Ser92Asn, XP_047305462.1:p.Ser126Asn, XP_047305458.1:p.Ser126Asn, XP_047305460.1:p.Ser103Asn, XP_047305459.1:p.Ser103Asn

Select item 142505522410.

rs1425055224 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGA>- [Show Flanks]
Chromosome:: 4:145064613 (GRCh38)
4:145985765 (GRCh37)
Canonical SPDI:: NC_000004.12:145064608:CTGACTGA:CTGA
Gene:: ANAPC10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGACTGA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.145064609CTGA[1], NC_000004.11:g.145985761CTGA[1], NM_014885.5:c.287_290del, NM_014885.4:c.287_290del, XM_017007639.3:c.389_392del, XM_017007639.2:c.389_392del, XM_017007639.1:c.389_392del, XM_011531525.3:c.287_290del, XM_011531525.2:c.401_404del, XM_011531525.1:c.401_404del, XM_017007641.2:c.389_392del, XM_017007641.1:c.389_392del, NM_001256708.2:c.287_290del, NM_001256708.1:c.287_290del, NM_001256709.2:c.320_323del, NM_001256709.1:c.320_323del, NM_001256711.2:c.287_290del, NM_001256711.1:c.287_290del, XM_017007642.2:c.320_323del, XM_017007642.1:c.320_323del, NM_001256707.2:c.287_290del, NM_001256707.1:c.287_290del, NM_001318367.2:c.389_392del, NM_001318367.1:c.389_392del, NM_001256710.2:c.287_290del, NM_001256710.1:c.287_290del, NM_001256706.2:c.287_290del, NM_001256706.1:c.287_290del, XM_047449505.1:c.287_290del, XM_047449506.1:c.389_392del, XM_047449502.1:c.389_392del, XM_047449504.1:c.320_323del, XM_047449503.1:c.320_323del, NP_055700.2:p.Val96fs, XP_016863128.1:p.Val130fs, XP_011529827.2:p.Val96fs, XP_016863130.1:p.Val130fs, NP_001243637.1:p.Val96fs, NP_001243638.1:p.Val107fs, NP_001243640.1:p.Val96fs, XP_016863131.1:p.Val107fs, NP_001243636.1:p.Val96fs, NP_001305296.1:p.Val130fs, NP_001243639.1:p.Val96fs, NP_001243635.1:p.Val96fs, XP_047305461.1:p.Val96fs, XP_047305462.1:p.Val130fs, XP_047305458.1:p.Val130fs, XP_047305460.1:p.Val107fs, XP_047305459.1:p.Val107fs

Select item 142374699211.

rs1423746992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:144999286 (GRCh38)
4:145920438 (GRCh37)
Canonical SPDI:: NC_000004.12:144999285:T:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.144999286T>C, NC_000004.11:g.145920438T>C, NM_001256711.2:c.336A>G, NM_001256711.1:c.336A>G, NM_001256710.2:c.336A>G, NM_001256710.1:c.336A>G

Select item 141703870412.

rs1417038704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:145096096 (GRCh38)
4:146017248 (GRCh37)
Canonical SPDI:: NC_000004.12:145096095:T:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145096096T>C, NC_000004.11:g.146017248T>C, NG_047075.1:g.3093T>C, NM_014885.5:c.4A>G, NM_014885.4:c.4A>G, XM_011531531.4:c.4A>G, XM_011531531.3:c.118A>G, XM_011531531.2:c.118A>G, XM_011531531.1:c.118A>G, XM_017007639.3:c.106A>G, XM_017007639.2:c.106A>G, XM_017007639.1:c.106A>G, XM_011531525.3:c.4A>G, XM_011531525.2:c.118A>G, XM_011531525.1:c.118A>G, XM_017007641.2:c.106A>G, XM_017007641.1:c.106A>G, NM_001256708.2:c.4A>G, NM_001256708.1:c.4A>G, NM_001256709.2:c.37A>G, NM_001256709.1:c.37A>G, NM_001256711.2:c.4A>G, NM_001256711.1:c.4A>G, XM_017007642.2:c.37A>G, XM_017007642.1:c.37A>G, NM_001256707.2:c.4A>G, NM_001256707.1:c.4A>G, NM_001318367.2:c.106A>G, NM_001318367.1:c.106A>G, NM_001256710.2:c.4A>G, NM_001256710.1:c.4A>G, NM_001256706.2:c.4A>G, NM_001256706.1:c.4A>G, NM_001256712.2:c.4A>G, NM_001256712.1:c.4A>G, XM_047449505.1:c.4A>G, XM_047449506.1:c.106A>G, XM_047449502.1:c.106A>G, XM_047449504.1:c.37A>G, XM_047449507.1:c.106A>G, XM_047449503.1:c.37A>G, NP_055700.2:p.Thr2Ala, XP_011529833.2:p.Thr2Ala, XP_016863128.1:p.Thr36Ala, XP_011529827.2:p.Thr2Ala, XP_016863130.1:p.Thr36Ala, NP_001243637.1:p.Thr2Ala, NP_001243638.1:p.Thr13Ala, NP_001243640.1:p.Thr2Ala, XP_016863131.1:p.Thr13Ala, NP_001243636.1:p.Thr2Ala, NP_001305296.1:p.Thr36Ala, NP_001243639.1:p.Thr2Ala, NP_001243635.1:p.Thr2Ala, NP_001243641.1:p.Thr2Ala, XP_047305461.1:p.Thr2Ala, XP_047305462.1:p.Thr36Ala, XP_047305458.1:p.Thr36Ala, XP_047305460.1:p.Thr13Ala, XP_047305463.1:p.Thr36Ala, XP_047305459.1:p.Thr13Ala

Select item 140653771713.

rs1406537717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:145081683 (GRCh38)
4:146002835 (GRCh37)
Canonical SPDI:: NC_000004.12:145081682:A:G
Gene:: ANAPC10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.145081683A>G, NC_000004.11:g.146002835A>G, NM_014885.5:c.183T>C, NM_014885.4:c.183T>C, XM_011531531.4:c.183T>C, XM_011531531.3:c.297T>C, XM_011531531.2:c.297T>C, XM_011531531.1:c.297T>C, XM_017007639.3:c.285T>C, XM_017007639.2:c.285T>C, XM_017007639.1:c.285T>C, XM_011531525.3:c.183T>C, XM_011531525.2:c.297T>C, XM_011531525.1:c.297T>C, XM_017007641.2:c.285T>C, XM_017007641.1:c.285T>C, NM_001256708.2:c.183T>C, NM_001256708.1:c.183T>C, NM_001256709.2:c.216T>C, NM_001256709.1:c.216T>C, NM_001256711.2:c.183T>C, NM_001256711.1:c.183T>C, XM_017007642.2:c.216T>C, XM_017007642.1:c.216T>C, NM_001256707.2:c.183T>C, NM_001256707.1:c.183T>C, NM_001318367.2:c.285T>C, NM_001318367.1:c.285T>C, NM_001256710.2:c.183T>C, NM_001256710.1:c.183T>C, NM_001256706.2:c.183T>C, NM_001256706.1:c.183T>C, NM_001256712.2:c.183T>C, NM_001256712.1:c.183T>C, XM_047449505.1:c.183T>C, XM_047449506.1:c.285T>C, XM_047449502.1:c.285T>C, XM_047449504.1:c.216T>C, XM_047449507.1:c.285T>C, XM_047449503.1:c.216T>C, NR_046345.1:n.168T>C

Select item 139305260414.

rs1393052604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:145064642 (GRCh38)
4:145985794 (GRCh37)
Canonical SPDI:: NC_000004.12:145064641:T:A
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.145064642T>A, NC_000004.11:g.145985794T>A, NM_014885.5:c.257A>T, NM_014885.4:c.257A>T, XM_017007639.3:c.359A>T, XM_017007639.2:c.359A>T, XM_017007639.1:c.359A>T, XM_011531525.3:c.257A>T, XM_011531525.2:c.371A>T, XM_011531525.1:c.371A>T, XM_017007641.2:c.359A>T, XM_017007641.1:c.359A>T, NM_001256708.2:c.257A>T, NM_001256708.1:c.257A>T, NM_001256709.2:c.290A>T, NM_001256709.1:c.290A>T, NM_001256711.2:c.257A>T, NM_001256711.1:c.257A>T, XM_017007642.2:c.290A>T, XM_017007642.1:c.290A>T, NM_001256707.2:c.257A>T, NM_001256707.1:c.257A>T, NM_001318367.2:c.359A>T, NM_001318367.1:c.359A>T, NM_001256710.2:c.257A>T, NM_001256710.1:c.257A>T, NM_001256706.2:c.257A>T, NM_001256706.1:c.257A>T, XM_047449505.1:c.257A>T, XM_047449506.1:c.359A>T, XM_047449502.1:c.359A>T, XM_047449504.1:c.290A>T, XM_047449503.1:c.290A>T, NP_055700.2:p.Asp86Val, XP_016863128.1:p.Asp120Val, XP_011529827.2:p.Asp86Val, XP_016863130.1:p.Asp120Val, NP_001243637.1:p.Asp86Val, NP_001243638.1:p.Asp97Val, NP_001243640.1:p.Asp86Val, XP_016863131.1:p.Asp97Val, NP_001243636.1:p.Asp86Val, NP_001305296.1:p.Asp120Val, NP_001243639.1:p.Asp86Val, NP_001243635.1:p.Asp86Val, XP_047305461.1:p.Asp86Val, XP_047305462.1:p.Asp120Val, XP_047305458.1:p.Asp120Val, XP_047305460.1:p.Asp97Val, XP_047305459.1:p.Asp97Val

Select item 139158434415.

rs1391584344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:145064647 (GRCh38)
4:145985799 (GRCh37)
Canonical SPDI:: NC_000004.12:145064646:T:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145064647T>C, NC_000004.11:g.145985799T>C, NM_014885.5:c.252A>G, NM_014885.4:c.252A>G, XM_017007639.3:c.354A>G, XM_017007639.2:c.354A>G, XM_017007639.1:c.354A>G, XM_011531525.3:c.252A>G, XM_011531525.2:c.366A>G, XM_011531525.1:c.366A>G, XM_017007641.2:c.354A>G, XM_017007641.1:c.354A>G, NM_001256708.2:c.252A>G, NM_001256708.1:c.252A>G, NM_001256709.2:c.285A>G, NM_001256709.1:c.285A>G, NM_001256711.2:c.252A>G, NM_001256711.1:c.252A>G, XM_017007642.2:c.285A>G, XM_017007642.1:c.285A>G, NM_001256707.2:c.252A>G, NM_001256707.1:c.252A>G, NM_001318367.2:c.354A>G, NM_001318367.1:c.354A>G, NM_001256710.2:c.252A>G, NM_001256710.1:c.252A>G, NM_001256706.2:c.252A>G, NM_001256706.1:c.252A>G, XM_047449505.1:c.252A>G, XM_047449506.1:c.354A>G, XM_047449502.1:c.354A>G, XM_047449504.1:c.285A>G, XM_047449503.1:c.285A>G

Select item 138037590616.

rs1380375906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:145064660 (GRCh38)
4:145985812 (GRCh37)
Canonical SPDI:: NC_000004.12:145064659:T:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.145064660T>C, NC_000004.11:g.145985812T>C, NM_014885.5:c.239A>G, NM_014885.4:c.239A>G, XM_017007639.3:c.341A>G, XM_017007639.2:c.341A>G, XM_017007639.1:c.341A>G, XM_011531525.3:c.239A>G, XM_011531525.2:c.353A>G, XM_011531525.1:c.353A>G, XM_017007641.2:c.341A>G, XM_017007641.1:c.341A>G, NM_001256708.2:c.239A>G, NM_001256708.1:c.239A>G, NM_001256709.2:c.272A>G, NM_001256709.1:c.272A>G, NM_001256711.2:c.239A>G, NM_001256711.1:c.239A>G, XM_017007642.2:c.272A>G, XM_017007642.1:c.272A>G, NM_001256707.2:c.239A>G, NM_001256707.1:c.239A>G, NM_001318367.2:c.341A>G, NM_001318367.1:c.341A>G, NM_001256710.2:c.239A>G, NM_001256710.1:c.239A>G, NM_001256706.2:c.239A>G, NM_001256706.1:c.239A>G, XM_047449505.1:c.239A>G, XM_047449506.1:c.341A>G, XM_047449502.1:c.341A>G, XM_047449504.1:c.272A>G, XM_047449503.1:c.272A>G, NP_055700.2:p.Tyr80Cys, XP_016863128.1:p.Tyr114Cys, XP_011529827.2:p.Tyr80Cys, XP_016863130.1:p.Tyr114Cys, NP_001243637.1:p.Tyr80Cys, NP_001243638.1:p.Tyr91Cys, NP_001243640.1:p.Tyr80Cys, XP_016863131.1:p.Tyr91Cys, NP_001243636.1:p.Tyr80Cys, NP_001305296.1:p.Tyr114Cys, NP_001243639.1:p.Tyr80Cys, NP_001243635.1:p.Tyr80Cys, XP_047305461.1:p.Tyr80Cys, XP_047305462.1:p.Tyr114Cys, XP_047305458.1:p.Tyr114Cys, XP_047305460.1:p.Tyr91Cys, XP_047305459.1:p.Tyr91Cys

Select item 137121993117.

rs1371219931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:145081720 (GRCh38)
4:146002872 (GRCh37)
Canonical SPDI:: NC_000004.12:145081719:T:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.145081720T>C, NC_000004.11:g.146002872T>C, NM_014885.5:c.146A>G, NM_014885.4:c.146A>G, XM_011531531.4:c.146A>G, XM_011531531.3:c.260A>G, XM_011531531.2:c.260A>G, XM_011531531.1:c.260A>G, XM_017007639.3:c.248A>G, XM_017007639.2:c.248A>G, XM_017007639.1:c.248A>G, XM_011531525.3:c.146A>G, XM_011531525.2:c.260A>G, XM_011531525.1:c.260A>G, XM_017007641.2:c.248A>G, XM_017007641.1:c.248A>G, NM_001256708.2:c.146A>G, NM_001256708.1:c.146A>G, NM_001256709.2:c.179A>G, NM_001256709.1:c.179A>G, NM_001256711.2:c.146A>G, NM_001256711.1:c.146A>G, XM_017007642.2:c.179A>G, XM_017007642.1:c.179A>G, NM_001256707.2:c.146A>G, NM_001256707.1:c.146A>G, NM_001318367.2:c.248A>G, NM_001318367.1:c.248A>G, NM_001256710.2:c.146A>G, NM_001256710.1:c.146A>G, NM_001256706.2:c.146A>G, NM_001256706.1:c.146A>G, NM_001256712.2:c.146A>G, NM_001256712.1:c.146A>G, XM_047449505.1:c.146A>G, XM_047449506.1:c.248A>G, XM_047449502.1:c.248A>G, XM_047449504.1:c.179A>G, XM_047449507.1:c.248A>G, XM_047449503.1:c.179A>G, NR_046345.1:n.131A>G, NP_055700.2:p.Asn49Ser, XP_011529833.2:p.Asn49Ser, XP_016863128.1:p.Asn83Ser, XP_011529827.2:p.Asn49Ser, XP_016863130.1:p.Asn83Ser, NP_001243637.1:p.Asn49Ser, NP_001243638.1:p.Asn60Ser, NP_001243640.1:p.Asn49Ser, XP_016863131.1:p.Asn60Ser, NP_001243636.1:p.Asn49Ser, NP_001305296.1:p.Asn83Ser, NP_001243639.1:p.Asn49Ser, NP_001243635.1:p.Asn49Ser, NP_001243641.1:p.Asn49Ser, XP_047305461.1:p.Asn49Ser, XP_047305462.1:p.Asn83Ser, XP_047305458.1:p.Asn83Ser, XP_047305460.1:p.Asn60Ser, XP_047305463.1:p.Asn83Ser, XP_047305459.1:p.Asn60Ser

Select item 134295182918.

rs1342951829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:145096038 (GRCh38)
4:146017190 (GRCh37)
Canonical SPDI:: NC_000004.12:145096037:G:A
Gene:: ANAPC10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145096038G>A, NC_000004.11:g.146017190G>A, NG_047075.1:g.3035G>A, NM_014885.5:c.62C>T, NM_014885.4:c.62C>T, XM_011531531.4:c.62C>T, XM_011531531.3:c.176C>T, XM_011531531.2:c.176C>T, XM_011531531.1:c.176C>T, XM_017007639.3:c.164C>T, XM_017007639.2:c.164C>T, XM_017007639.1:c.164C>T, XM_011531525.3:c.62C>T, XM_011531525.2:c.176C>T, XM_011531525.1:c.176C>T, XM_017007641.2:c.164C>T, XM_017007641.1:c.164C>T, NM_001256708.2:c.62C>T, NM_001256708.1:c.62C>T, NM_001256709.2:c.95C>T, NM_001256709.1:c.95C>T, NM_001256711.2:c.62C>T, NM_001256711.1:c.62C>T, XM_017007642.2:c.95C>T, XM_017007642.1:c.95C>T, NM_001256707.2:c.62C>T, NM_001256707.1:c.62C>T, NM_001318367.2:c.164C>T, NM_001318367.1:c.164C>T, NM_001256710.2:c.62C>T, NM_001256710.1:c.62C>T, NM_001256706.2:c.62C>T, NM_001256706.1:c.62C>T, NM_001256712.2:c.62C>T, NM_001256712.1:c.62C>T, XM_047449505.1:c.62C>T, XM_047449506.1:c.164C>T, XM_047449502.1:c.164C>T, XM_047449504.1:c.95C>T, XM_047449507.1:c.164C>T, XM_047449503.1:c.95C>T, NP_055700.2:p.Thr21Ile, XP_011529833.2:p.Thr21Ile, XP_016863128.1:p.Thr55Ile, XP_011529827.2:p.Thr21Ile, XP_016863130.1:p.Thr55Ile, NP_001243637.1:p.Thr21Ile, NP_001243638.1:p.Thr32Ile, NP_001243640.1:p.Thr21Ile, XP_016863131.1:p.Thr32Ile, NP_001243636.1:p.Thr21Ile, NP_001305296.1:p.Thr55Ile, NP_001243639.1:p.Thr21Ile, NP_001243635.1:p.Thr21Ile, NP_001243641.1:p.Thr21Ile, XP_047305461.1:p.Thr21Ile, XP_047305462.1:p.Thr55Ile, XP_047305458.1:p.Thr55Ile, XP_047305460.1:p.Thr32Ile, XP_047305463.1:p.Thr55Ile, XP_047305459.1:p.Thr32Ile

Select item 133187902519.

rs1331879025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:145096030 (GRCh38)
4:146017182 (GRCh37)
Canonical SPDI:: NC_000004.12:145096029:C:G
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145096030C>G, NC_000004.11:g.146017182C>G, NG_047075.1:g.3027C>G, NM_014885.5:c.70G>C, NM_014885.4:c.70G>C, XM_011531531.4:c.70G>C, XM_011531531.3:c.184G>C, XM_011531531.2:c.184G>C, XM_011531531.1:c.184G>C, XM_017007639.3:c.172G>C, XM_017007639.2:c.172G>C, XM_017007639.1:c.172G>C, XM_011531525.3:c.70G>C, XM_011531525.2:c.184G>C, XM_011531525.1:c.184G>C, XM_017007641.2:c.172G>C, XM_017007641.1:c.172G>C, NM_001256708.2:c.70G>C, NM_001256708.1:c.70G>C, NM_001256709.2:c.103G>C, NM_001256709.1:c.103G>C, NM_001256711.2:c.70G>C, NM_001256711.1:c.70G>C, XM_017007642.2:c.103G>C, XM_017007642.1:c.103G>C, NM_001256707.2:c.70G>C, NM_001256707.1:c.70G>C, NM_001318367.2:c.172G>C, NM_001318367.1:c.172G>C, NM_001256710.2:c.70G>C, NM_001256710.1:c.70G>C, NM_001256706.2:c.70G>C, NM_001256706.1:c.70G>C, NM_001256712.2:c.70G>C, NM_001256712.1:c.70G>C, XM_047449505.1:c.70G>C, XM_047449506.1:c.172G>C, XM_047449502.1:c.172G>C, XM_047449504.1:c.103G>C, XM_047449507.1:c.172G>C, XM_047449503.1:c.103G>C, NP_055700.2:p.Glu24Gln, XP_011529833.2:p.Glu24Gln, XP_016863128.1:p.Glu58Gln, XP_011529827.2:p.Glu24Gln, XP_016863130.1:p.Glu58Gln, NP_001243637.1:p.Glu24Gln, NP_001243638.1:p.Glu35Gln, NP_001243640.1:p.Glu24Gln, XP_016863131.1:p.Glu35Gln, NP_001243636.1:p.Glu24Gln, NP_001305296.1:p.Glu58Gln, NP_001243639.1:p.Glu24Gln, NP_001243635.1:p.Glu24Gln, NP_001243641.1:p.Glu24Gln, XP_047305461.1:p.Glu24Gln, XP_047305462.1:p.Glu58Gln, XP_047305458.1:p.Glu58Gln, XP_047305460.1:p.Glu35Gln, XP_047305463.1:p.Glu58Gln, XP_047305459.1:p.Glu35Gln

Select item 131084229920.

rs1310842299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:145081704 (GRCh38)
4:146002856 (GRCh37)
Canonical SPDI:: NC_000004.12:145081703:C:T
Gene:: ANAPC10 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.145081704C>T, NC_000004.11:g.146002856C>T, NM_014885.5:c.162G>A, NM_014885.4:c.162G>A, XM_011531531.4:c.162G>A, XM_011531531.3:c.276G>A, XM_011531531.2:c.276G>A, XM_011531531.1:c.276G>A, XM_017007639.3:c.264G>A, XM_017007639.2:c.264G>A, XM_017007639.1:c.264G>A, XM_011531525.3:c.162G>A, XM_011531525.2:c.276G>A, XM_011531525.1:c.276G>A, XM_017007641.2:c.264G>A, XM_017007641.1:c.264G>A, NM_001256708.2:c.162G>A, NM_001256708.1:c.162G>A, NM_001256709.2:c.195G>A, NM_001256709.1:c.195G>A, NM_001256711.2:c.162G>A, NM_001256711.1:c.162G>A, XM_017007642.2:c.195G>A, XM_017007642.1:c.195G>A, NM_001256707.2:c.162G>A, NM_001256707.1:c.162G>A, NM_001318367.2:c.264G>A, NM_001318367.1:c.264G>A, NM_001256710.2:c.162G>A, NM_001256710.1:c.162G>A, NM_001256706.2:c.162G>A, NM_001256706.1:c.162G>A, NM_001256712.2:c.162G>A, NM_001256712.1:c.162G>A, XM_047449505.1:c.162G>A, XM_047449506.1:c.264G>A, XM_047449502.1:c.264G>A, XM_047449504.1:c.195G>A, XM_047449507.1:c.264G>A, XM_047449503.1:c.195G>A, NR_046345.1:n.147G>A, NP_055700.2:p.Trp54Ter, XP_011529833.2:p.Trp54Ter, XP_016863128.1:p.Trp88Ter, XP_011529827.2:p.Trp54Ter, XP_016863130.1:p.Trp88Ter, NP_001243637.1:p.Trp54Ter, NP_001243638.1:p.Trp65Ter, NP_001243640.1:p.Trp54Ter, XP_016863131.1:p.Trp65Ter, NP_001243636.1:p.Trp54Ter, NP_001305296.1:p.Trp88Ter, NP_001243639.1:p.Trp54Ter, NP_001243635.1:p.Trp54Ter, NP_001243641.1:p.Trp54Ter, XP_047305461.1:p.Trp54Ter, XP_047305462.1:p.Trp88Ter, XP_047305458.1:p.Trp88Ter, XP_047305460.1:p.Trp65Ter, XP_047305463.1:p.Trp88Ter, XP_047305459.1:p.Trp65Ter

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