SNP Links for Protein (Select 1034638088) - SNP

Links from Protein

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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 14861958293.

rs1486195829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:145033331 (GRCh38)
4:145954483 (GRCh37)
Canonical SPDI:: NC_000004.12:145033330:T:C
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.145033331T>C, NC_000004.11:g.145954483T>C, XM_011531525.3:c.368A>G, XM_011531525.2:c.482A>G, XM_011531525.1:c.482A>G, XM_017007641.2:c.470A>G, XM_017007641.1:c.470A>G, XM_017007642.2:c.401A>G, XM_017007642.1:c.401A>G, XP_011529827.2:p.Gln123Arg, XP_016863130.1:p.Gln157Arg, XP_016863131.1:p.Gln134Arg

Select item 14855704854.

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 14787769745.

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 14765093456.

rs1476509345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:145033318 (GRCh38)
4:145954470 (GRCh37)
Canonical SPDI:: NC_000004.12:145033317:C:T
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.145033318C>T, NC_000004.11:g.145954470C>T, XM_011531525.3:c.381G>A, XM_011531525.2:c.495G>A, XM_011531525.1:c.495G>A, XM_017007641.2:c.483G>A, XM_017007641.1:c.483G>A, XM_017007642.2:c.414G>A, XM_017007642.1:c.414G>A, XP_011529827.2:p.Met127Ile, XP_016863130.1:p.Met161Ile, XP_016863131.1:p.Met138Ile

Select item 14670627147.

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 14622916868.

rs1462291686 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:145033273 (GRCh38)
4:145954425 (GRCh37)
Canonical SPDI:: NC_000004.12:145033272:CCCC:CCC
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.145033276del, NC_000004.11:g.145954428del, XM_011531525.3:c.426del, XM_011531525.2:c.540del, XM_011531525.1:c.540del, XM_017007641.2:c.528del, XM_017007641.1:c.528del, XM_017007642.2:c.459del, XM_017007642.1:c.459del, XP_011529827.2:p.Ter143AspextTer?, XP_016863130.1:p.Ter177AspextTer?, XP_016863131.1:p.Ter154AspextTer?

Select item 14565005409.

rs1456500540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:145096103 (GRCh38)
4:146017255 (GRCh37)
Canonical SPDI:: NC_000004.12:145096102:T:A
Gene:: ANAPC10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000004.12:g.145096103T>A, NC_000004.11:g.146017255T>A, NG_047075.1:g.3100T>A, NM_014885.5:c.-4A>T, NM_014885.4:c.-4A>T, XM_011531531.4:c.-4A>T, XM_011531531.3:c.111A>T, XM_011531531.2:c.111A>T, XM_011531531.1:c.111A>T, XM_017007639.3:c.99A>T, XM_017007639.2:c.99A>T, XM_017007639.1:c.99A>T, XM_011531525.3:c.-4A>T, XM_011531525.2:c.111A>T, XM_011531525.1:c.111A>T, XM_017007641.2:c.99A>T, XM_017007641.1:c.99A>T, NM_001256708.2:c.-4A>T, NM_001256708.1:c.-4A>T, NM_001256709.2:c.30A>T, NM_001256709.1:c.30A>T, NM_001256711.2:c.-4A>T, NM_001256711.1:c.-4A>T, XM_017007642.2:c.30A>T, XM_017007642.1:c.30A>T, NM_001256707.2:c.-4A>T, NM_001256707.1:c.-4A>T, NM_001318367.2:c.99A>T, NM_001318367.1:c.99A>T, NM_001256710.2:c.-4A>T, NM_001256710.1:c.-4A>T, NM_001256706.2:c.-4A>T, NM_001256706.1:c.-4A>T, NM_001256712.2:c.-4A>T, NM_001256712.1:c.-4A>T, XM_047449505.1:c.-4A>T, XM_047449506.1:c.99A>T, XM_047449502.1:c.99A>T, XM_047449504.1:c.30A>T, XM_047449507.1:c.99A>T, XM_047449503.1:c.30A>T, XP_016863128.1:p.Leu33Phe, XP_016863130.1:p.Leu33Phe, NP_001243638.1:p.Leu10Phe, XP_016863131.1:p.Leu10Phe, NP_001305296.1:p.Leu33Phe, XP_047305462.1:p.Leu33Phe, XP_047305458.1:p.Leu33Phe, XP_047305460.1:p.Leu10Phe, XP_047305463.1:p.Leu33Phe, XP_047305459.1:p.Leu10Phe

Select item 145241651610.

rs1452416516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:145033296 (GRCh38)
4:145954448 (GRCh37)
Canonical SPDI:: NC_000004.12:145033295:T:G
Gene:: ANAPC10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.145033296T>G, NC_000004.11:g.145954448T>G, XM_011531525.3:c.403A>C, XM_011531525.2:c.517A>C, XM_011531525.1:c.517A>C, XM_017007641.2:c.505A>C, XM_017007641.1:c.505A>C, XM_017007642.2:c.436A>C, XM_017007642.1:c.436A>C, XP_011529827.2:p.Met135Leu, XP_016863130.1:p.Met169Leu, XP_016863131.1:p.Met146Leu

Select item 143820509011.

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 143746182712.

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 143742865213.

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 142505522414.

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 141703870415.

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 140653771716.

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 139305260417.

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 139158434418.

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 138037590619.

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 137312064720.

rs1373120647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:145096098 (GRCh38)
4:146017250 (GRCh37)
Canonical SPDI:: NC_000004.12:145096097:A:G
Gene:: ANAPC10 (Varview)
Functional Consequence:: initiator_codon_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.145096098A>G, NC_000004.11:g.146017250A>G, NG_047075.1:g.3095A>G, NM_014885.5:c.2T>C, NM_014885.4:c.2T>C, XM_011531531.4:c.2T>C, XM_011531531.3:c.116T>C, XM_011531531.2:c.116T>C, XM_011531531.1:c.116T>C, XM_017007639.3:c.104T>C, XM_017007639.2:c.104T>C, XM_017007639.1:c.104T>C, XM_011531525.3:c.2T>C, XM_011531525.2:c.116T>C, XM_011531525.1:c.116T>C, XM_017007641.2:c.104T>C, XM_017007641.1:c.104T>C, NM_001256708.2:c.2T>C, NM_001256708.1:c.2T>C, NM_001256709.2:c.35T>C, NM_001256709.1:c.35T>C, NM_001256711.2:c.2T>C, NM_001256711.1:c.2T>C, XM_017007642.2:c.35T>C, XM_017007642.1:c.35T>C, NM_001256707.2:c.2T>C, NM_001256707.1:c.2T>C, NM_001318367.2:c.104T>C, NM_001318367.1:c.104T>C, NM_001256710.2:c.2T>C, NM_001256710.1:c.2T>C, NM_001256706.2:c.2T>C, NM_001256706.1:c.2T>C, NM_001256712.2:c.2T>C, NM_001256712.1:c.2T>C, XM_047449505.1:c.2T>C, XM_047449506.1:c.104T>C, XM_047449502.1:c.104T>C, XM_047449504.1:c.35T>C, XM_047449507.1:c.104T>C, XM_047449503.1:c.35T>C, NP_055700.2:p.Met1Thr, XP_011529833.2:p.Met1Thr, XP_016863128.1:p.Met35Thr, XP_011529827.2:p.Met1Thr, XP_016863130.1:p.Met35Thr, NP_001243637.1:p.Met1Thr, NP_001243638.1:p.Met12Thr, NP_001243640.1:p.Met1Thr, XP_016863131.1:p.Met12Thr, NP_001243636.1:p.Met1Thr, NP_001305296.1:p.Met35Thr, NP_001243639.1:p.Met1Thr, NP_001243635.1:p.Met1Thr, NP_001243641.1:p.Met1Thr, XP_047305461.1:p.Met1Thr, XP_047305462.1:p.Met35Thr, XP_047305458.1:p.Met35Thr, XP_047305460.1:p.Met12Thr, XP_047305463.1:p.Met35Thr, XP_047305459.1:p.Met12Thr

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