Canonical Allele Identifier: CA001398

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 17693
• ClinVar RCV Id: RCV000019263 ; RCV000047713 ; RCV000131899 ; RCV000195359 ; RCV000469732 ; RCV000508177 ; RCV000763009
• dbSNP Id: rs80357382
• gnomAD v2: 17-41258474-T-C
• gnomAD v4: 17-43106457-T-C
• MyVariant Identifiers: chr17:g.41258474T>C (hg19) ; chr17:g.43106457T>C (hg38)
• PubMed: PMID:10508480 ; PMID:11320250 ; PMID:11385711 ; PMID:12014998 ; PMID:12955716 ; PMID:15235020 ; PMID:16280041 ; PMID:16403807 ; PMID:18159056 ; PMID:19123044 ; PMID:19208665 ; PMID:20103620 ; PMID:20104584 ; PMID:20215541 ; PMID:22505045 ; PMID:23161852 ; PMID:23199084 ; PMID:23683081 ; PMID:25716084 ; PMID:25782689 ; PMID:26246475 ; PMID:26295337
• CIViC: CA001398

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43106457T>C , CM000679.2:g.43106457T>C	GRCh38
NC_000017.10:g.41258474T>C , CM000679.1:g.41258474T>C	GRCh37
NC_000017.9:g.38512000T>C	NCBI36
NG_005905.2:g.111527A>G , LRG_292:g.111527A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.275A>G
ENST00000461574.2:c.211A>G	ENSP00000417241.2:p.Arg71Gly
ENST00000470026.6:c.211A>G	ENSP00000419274.2:p.Arg71Gly
ENST00000473961.6:c.211A>G	ENSP00000420201.2:p.Arg71Gly
ENST00000476777.6:c.211A>G	ENSP00000417554.2:p.Arg71Gly
ENST00000477152.6:c.135-1501A>G	ENSP00000419988.2:n.135-1501A>G
ENST00000478531.6:c.211A>G	ENSP00000420412.2:p.Arg71Gly
ENST00000489037.2:c.135-1501A>G	ENSP00000420781.2:n.135-1501A>G
ENST00000493919.6:c.70A>G	ENSP00000418819.2:p.Arg24Gly
ENST00000494123.6:c.211A>G	ENSP00000419103.2:p.Arg71Gly
ENST00000497488.2:c.-218-11597A>G	ENSP00000418986.2:n.-218-11597A>G
ENST00000618469.2:c.211A>G	ENSP00000478114.2:p.Arg71Gly
ENST00000634433.2:c.211A>G	ENSP00000489431.2:p.Arg71Gly
ENST00000644379.2:c.211A>G	ENSP00000496570.2:p.Arg71Gly
ENST00000644555.2:c.70A>G	ENSP00000494614.2:p.Arg24Gly
ENST00000652672.2:c.70A>G	ENSP00000498906.2:p.Arg24Gly
ENST00000484087.6:c.211A>G	ENSP00000419481.2:p.Arg71Gly
ENST00000700182.1:c.135-1501A>G	ENSP00000514849.1:n.135-1501A>G
ENST00000700183.1:c.*126+21A>G	ENSP00000514850.1:n.*126+21A>G
ENST00000700184.1:n.454A>G
ENST00000357654.9:c.211A>G MANE Select	ENSP00000350283.3:p.Arg71Gly
ENST00000471181.7:c.211A>G	ENSP00000418960.2:p.Arg71Gly
ENST00000642945.1:c.*85A>G	ENSP00000495897.1:n.*85A>G
ENST00000644555.1:c.70A>G	ENSP00000494614.1:p.Arg24Gly
ENST00000652672.1:c.70A>G	ENSP00000498906.1:p.Arg24Gly
ENST00000352993.7:c.211A>G	ENSP00000312236.5:p.Arg71Gly
ENST00000354071.7:c.211A>G	ENSP00000326002.7:p.Arg71Gly
ENST00000357654.7:c.211A>G	ENSP00000350283.3:p.Arg71Gly
ENST00000461221.5:c.190+21A>G	ENSP00000418548.1:n.190+21A>G
ENST00000461798.5:c.190+21A>G	ENSP00000417988.1:n.190+21A>G
ENST00000468300.5:c.211A>G	ENSP00000417148.1:p.Arg71Gly
ENST00000470026.5:c.211A>G	ENSP00000419274.1:p.Arg71Gly
ENST00000471181.6:c.211A>G	ENSP00000418960.2:p.Arg71Gly
ENST00000476777.5:c.211A>G	ENSP00000417554.1:p.Arg71Gly
ENST00000477152.5:c.135-1501A>G	ENSP00000419988.1:n.135-1501A>G
ENST00000478531.5:c.211A>G	ENSP00000420412.1:p.Arg71Gly
ENST00000489037.1:c.135-1501A>G	ENSP00000420781.1:n.135-1501A>G
ENST00000491747.6:c.211A>G	ENSP00000420705.2:p.Arg71Gly
ENST00000492859.5:c.*147A>G	ENSP00000420253.1:n.*147A>G
ENST00000493795.5:c.70A>G	ENSP00000418775.1:p.Arg24Gly
ENST00000493919.5:c.70A>G	ENSP00000418819.1:p.Arg24Gly
ENST00000494123.5:c.211A>G	ENSP00000419103.1:p.Arg71Gly
ENST00000497488.1:c.-218-11597A>G	ENSP00000418986.1:n.-218-11597A>G
ENST00000586385.5:c.4+18725A>G	ENSP00000465818.1:n.4+18725A>G
ENST00000591534.5:c.-44+18814A>G	ENSP00000467329.1:n.-44+18814A>G
ENST00000591849.5:c.-99+18814A>G	ENSP00000465347.1:n.-99+18814A>G
ENST00000634433.1:c.211A>G	ENSP00000489431.1:p.Arg71Gly
NM_007294.3:c.211A>G , LRG_292t1:c.211A>G	NP_009225.1:p.Arg71Gly
NM_007297.3:c.70A>G	NP_009228.2:p.Arg24Gly
NM_007298.3:c.211A>G	NP_009229.2:p.Arg71Gly
NM_007299.3:c.211A>G	NP_009230.2:p.Arg71Gly
NM_007300.3:c.211A>G	NP_009231.2:p.Arg71Gly
NR_027676.1:n.351+21A>G
NM_007294.4:c.211A>G MANE Select	NP_009225.1:p.Arg71Gly
NM_007297.4:c.70A>G	NP_009228.2:p.Arg24Gly
NM_007299.4:c.211A>G	NP_009230.2:p.Arg71Gly
NM_007300.4:c.211A>G	NP_009231.2:p.Arg71Gly
NR_027676.2:n.392+21A>G