SNP Links for Protein (Select 83715968) - SNP

Links from Protein

Items: 1 to 20 of 991

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Select item 14906839891.

rs1490683989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:32760179 (GRCh38)
11:32781725 (GRCh37)
Canonical SPDI:: NC_000011.10:32760178:A:C,NC_000011.10:32760178:A:G
Gene:: CCDC73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.32760179A>C, NC_000011.10:g.32760179A>G, NC_000011.9:g.32781725A>C, NC_000011.9:g.32781725A>G, NM_001008391.4:c.65T>G, NM_001008391.4:c.65T>C, NM_001008391.3:c.65T>G, NM_001008391.3:c.65T>C, XM_047427029.1:c.65T>G, XM_047427029.1:c.65T>C, XM_047427030.1:c.65T>G, XM_047427030.1:c.65T>C, NP_001008392.2:p.Leu22Trp, NP_001008392.2:p.Leu22Ser, XP_047282985.1:p.Leu22Trp, XP_047282985.1:p.Leu22Ser, XP_047282986.1:p.Leu22Trp, XP_047282986.1:p.Leu22Ser

Select item 14906737662.

rs1490673766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:32683547 (GRCh38)
11:32705093 (GRCh37)
Canonical SPDI:: NC_000011.10:32683546:C:T
Gene:: CCDC73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.32683547C>T, NC_000011.9:g.32705093C>T, NM_001008391.4:c.418G>A, NM_001008391.3:c.418G>A, XM_047427029.1:c.418G>A, XM_047427030.1:c.418G>A, XM_047427031.1:c.160G>A, NP_001008392.2:p.Val140Met, XP_047282985.1:p.Val140Met, XP_047282986.1:p.Val140Met, XP_047282987.1:p.Val54Met

Select item 14887350233.

rs1488735023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:32613849 (GRCh38)
11:32635395 (GRCh37)
Canonical SPDI:: NC_000011.10:32613848:T:C
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.32613849T>C, NC_000011.9:g.32635395T>C, NM_001008391.4:c.2469A>G, NM_001008391.3:c.2469A>G, XM_047427029.1:c.2469A>G, XM_047427030.1:c.2469A>G, XM_047427031.1:c.2211A>G

Select item 14885406564.

rs1488540656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:32653141 (GRCh38)
11:32674687 (GRCh37)
Canonical SPDI:: NC_000011.10:32653140:C:A
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32653141C>A, NC_000011.9:g.32674687C>A, NM_001008391.4:c.921G>T, NM_001008391.3:c.921G>T, XM_047427029.1:c.921G>T, XM_047427030.1:c.921G>T, XM_047427031.1:c.663G>T

Select item 14868848215.

rs1486884821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32613708 (GRCh38)
11:32635254 (GRCh37)
Canonical SPDI:: NC_000011.10:32613707:G:A
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32613708G>A, NC_000011.9:g.32635254G>A, NM_001008391.4:c.2610C>T, NM_001008391.3:c.2610C>T, XM_047427029.1:c.2610C>T, XM_047427030.1:c.2610C>T, XM_047427031.1:c.2352C>T

Select item 14865210736.

rs1486521073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:32614182 (GRCh38)
11:32635728 (GRCh37)
Canonical SPDI:: NC_000011.10:32614181:A:G
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32614182A>G, NC_000011.9:g.32635728A>G, NM_001008391.4:c.2136T>C, NM_001008391.3:c.2136T>C, XM_047427029.1:c.2136T>C, XM_047427030.1:c.2136T>C, XM_047427031.1:c.1878T>C

Select item 14864280057.

rs1486428005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:32613457 (GRCh38)
11:32635003 (GRCh37)
Canonical SPDI:: NC_000011.10:32613456:A:G
Gene:: CCDC73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.32613457A>G, NC_000011.9:g.32635003A>G, NM_001008391.4:c.2861T>C, NM_001008391.3:c.2861T>C, XM_047427029.1:c.2861T>C, XM_047427030.1:c.2861T>C, XM_047427031.1:c.2603T>C, NP_001008392.2:p.Ile954Thr, XP_047282985.1:p.Ile954Thr, XP_047282986.1:p.Ile954Thr, XP_047282987.1:p.Ile868Thr

Select item 14855270828.

rs1485527082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:32676019 (GRCh38)
11:32697565 (GRCh37)
Canonical SPDI:: NC_000011.10:32676018:T:C
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.32676019T>C, NC_000011.9:g.32697565T>C, NM_001008391.4:c.432A>G, NM_001008391.3:c.432A>G, XM_047427029.1:c.432A>G, XM_047427030.1:c.432A>G, XM_047427031.1:c.174A>G

Select item 14850180849.

rs1485018084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:32602944 (GRCh38)
11:32624490 (GRCh37)
Canonical SPDI:: NC_000011.10:32602943:C:G,NC_000011.10:32602943:C:T
Gene:: EIF3M (Varview), CCDC73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.32602944C>G, NC_000011.10:g.32602944C>T, NC_000011.9:g.32624490C>G, NC_000011.9:g.32624490C>T, NM_006360.6:c.*545C>G, NM_006360.6:c.*545C>T, NM_001008391.4:c.3107G>C, NM_001008391.4:c.3107G>A, NM_001008391.3:c.3107G>C, NM_001008391.3:c.3107G>A, NM_001307929.2:c.*545C>G, NM_001307929.2:c.*545C>T, XM_047427029.1:c.3107G>C, XM_047427029.1:c.3107G>A, XM_047427030.1:c.3107G>C, XM_047427030.1:c.3107G>A, XM_047427031.1:c.2849G>C, XM_047427031.1:c.2849G>A, NP_001008392.2:p.Gly1036Ala, NP_001008392.2:p.Gly1036Asp, XP_047282985.1:p.Gly1036Ala, XP_047282985.1:p.Gly1036Asp, XP_047282986.1:p.Gly1036Ala, XP_047282986.1:p.Gly1036Asp, XP_047282987.1:p.Gly950Ala, XP_047282987.1:p.Gly950Asp

Select item 148456159010.

rs1484561590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:32613482 (GRCh38)
11:32635028 (GRCh37)
Canonical SPDI:: NC_000011.10:32613481:T:C
Gene:: CCDC73 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32613482T>C, NC_000011.9:g.32635028T>C, NM_001008391.4:c.2836A>G, NM_001008391.3:c.2836A>G, XM_047427029.1:c.2836A>G, XM_047427030.1:c.2836A>G, XM_047427031.1:c.2578A>G, NP_001008392.2:p.Ile946Val, XP_047282985.1:p.Ile946Val, XP_047282986.1:p.Ile946Val, XP_047282987.1:p.Ile860Val

Select item 148286268711.

rs1482862687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:32611222 (GRCh38)
11:32632768 (GRCh37)
Canonical SPDI:: NC_000011.10:32611221:C:A
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.32611222C>A, NC_000011.9:g.32632768C>A, NM_001008391.4:c.2940G>T, NM_001008391.3:c.2940G>T, XM_047427029.1:c.2940G>T, XM_047427030.1:c.2940G>T, XM_047427031.1:c.2682G>T, NP_001008392.2:p.Trp980Cys, XP_047282985.1:p.Trp980Cys, XP_047282986.1:p.Trp980Cys, XP_047282987.1:p.Trp894Cys

Select item 148215163612.

rs1482151636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:32760201 (GRCh38)
11:32781747 (GRCh37)
Canonical SPDI:: NC_000011.10:32760200:G:A,NC_000011.10:32760200:G:T
Gene:: CCDC73 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.32760201G>A, NC_000011.10:g.32760201G>T, NC_000011.9:g.32781747G>A, NC_000011.9:g.32781747G>T, NM_001008391.4:c.43C>T, NM_001008391.4:c.43C>A, NM_001008391.3:c.43C>T, NM_001008391.3:c.43C>A, XM_047427029.1:c.43C>T, XM_047427029.1:c.43C>A, XM_047427030.1:c.43C>T, XM_047427030.1:c.43C>A, NP_001008392.2:p.Leu15Phe, NP_001008392.2:p.Leu15Ile, XP_047282985.1:p.Leu15Phe, XP_047282985.1:p.Leu15Ile, XP_047282986.1:p.Leu15Phe, XP_047282986.1:p.Leu15Ile

Select item 148139459313.

rs1481394593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:32613695 (GRCh38)
11:32635241 (GRCh37)
Canonical SPDI:: NC_000011.10:32613694:C:T
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.32613695C>T, NC_000011.9:g.32635241C>T, NM_001008391.4:c.2623G>A, NM_001008391.3:c.2623G>A, XM_047427029.1:c.2623G>A, XM_047427030.1:c.2623G>A, XM_047427031.1:c.2365G>A, NP_001008392.2:p.Gly875Arg, XP_047282985.1:p.Gly875Arg, XP_047282986.1:p.Gly875Arg, XP_047282987.1:p.Gly789Arg

Select item 147955461714.

rs1479554617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:32642068 (GRCh38)
11:32663614 (GRCh37)
Canonical SPDI:: NC_000011.10:32642067:A:G
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.32642068A>G, NC_000011.9:g.32663614A>G, NM_001008391.4:c.954T>C, NM_001008391.3:c.954T>C, XM_047427029.1:c.954T>C, XM_047427030.1:c.954T>C, XM_047427031.1:c.696T>C

Select item 147952302515.

rs1479523025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:32675640 (GRCh38)
11:32697186 (GRCh37)
Canonical SPDI:: NC_000011.10:32675639:C:T
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.32675640C>T, NC_000011.9:g.32697186C>T, NM_001008391.4:c.570G>A, NM_001008391.3:c.570G>A, XM_047427029.1:c.570G>A, XM_047427030.1:c.570G>A, XM_047427031.1:c.312G>A

Select item 147918755816.

rs1479187558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:32654007 (GRCh38)
11:32675553 (GRCh37)
Canonical SPDI:: NC_000011.10:32654006:C:T
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.32654007C>T, NC_000011.9:g.32675553C>T, NM_001008391.4:c.805G>A, NM_001008391.3:c.805G>A, XM_047427029.1:c.805G>A, XM_047427030.1:c.805G>A, XM_047427031.1:c.547G>A, NP_001008392.2:p.Glu269Lys, XP_047282985.1:p.Glu269Lys, XP_047282986.1:p.Glu269Lys, XP_047282987.1:p.Glu183Lys

Select item 147854154917.

rs1478541549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:32616048 (GRCh38)
11:32637594 (GRCh37)
Canonical SPDI:: NC_000011.10:32616047:C:T
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32616048C>T, NC_000011.9:g.32637594C>T, NM_001008391.4:c.1267G>A, NM_001008391.3:c.1267G>A, XM_047427029.1:c.1267G>A, XM_047427030.1:c.1267G>A, XM_047427031.1:c.1009G>A, NP_001008392.2:p.Glu423Lys, XP_047282985.1:p.Glu423Lys, XP_047282986.1:p.Glu423Lys, XP_047282987.1:p.Glu337Lys

Select item 147807253118.

rs1478072531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:32614882 (GRCh38)
11:32636428 (GRCh37)
Canonical SPDI:: NC_000011.10:32614881:T:C
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32614882T>C, NC_000011.9:g.32636428T>C, NM_001008391.4:c.1436A>G, NM_001008391.3:c.1436A>G, XM_047427029.1:c.1436A>G, XM_047427030.1:c.1436A>G, XM_047427031.1:c.1178A>G, NP_001008392.2:p.Glu479Gly, XP_047282985.1:p.Glu479Gly, XP_047282986.1:p.Glu479Gly, XP_047282987.1:p.Glu393Gly

Select item 147791412619.

rs1477914126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32654949 (GRCh38)
11:32676495 (GRCh37)
Canonical SPDI:: NC_000011.10:32654948:G:A
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.32654949G>A, NC_000011.9:g.32676495G>A, NM_001008391.4:c.669C>T, NM_001008391.3:c.669C>T, XM_047427029.1:c.669C>T, XM_047427030.1:c.669C>T, XM_047427031.1:c.411C>T

Select item 147709682320.

rs1477096823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32614459 (GRCh38)
11:32636005 (GRCh37)
Canonical SPDI:: NC_000011.10:32614458:G:A
Gene:: CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32614459G>A, NC_000011.9:g.32636005G>A, NM_001008391.4:c.1859C>T, NM_001008391.3:c.1859C>T, XM_047427029.1:c.1859C>T, XM_047427030.1:c.1859C>T, XM_047427031.1:c.1601C>T, NP_001008392.2:p.Thr620Ile, XP_047282985.1:p.Thr620Ile, XP_047282986.1:p.Thr620Ile, XP_047282987.1:p.Thr534Ile

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