Canonical Allele Identifier: CA000976

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54258
• ClinVar RCV Id: RCV000111622 ; RCV000120299 ; RCV000167847 ; RCV000162618 ; RCV000656642 ; RCV001798245
• dbSNP Id: rs55906931
• ExAC: 17:41246092 A / G
• gnomAD v2: 17-41246092-A-G
• gnomAD v3: 17-43094075-A-G
• gnomAD v4: 17-43094075-A-G
• MyVariant Identifiers: chr17:g.41246092A>G (hg19) ; chr17:g.43094075A>G (hg38)
• PubMed: PMID:10923033 ; PMID:12955716 ; PMID:15235020 ; PMID:15829246 ; PMID:16014699 ; PMID:16267036 ; PMID:16760288 ; PMID:17279547 ; PMID:18176857 ; PMID:18375895 ; PMID:18415037 ; PMID:18680205 ; PMID:19471317 ; PMID:20960228 ; PMID:21603858 ; PMID:21990134 ; PMID:22713736 ; PMID:24728327 ; PMID:25556971 ; PMID:25814778 ; PMID:25948282 ; PMID:26183948 ; PMID:26306726 ; PMID:27844240

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094075A>G , CM000679.2:g.43094075A>G	GRCh38
NC_000017.10:g.41246092A>G , CM000679.1:g.41246092A>G	GRCh37
NC_000017.9:g.38499618A>G	NCBI36
NG_005905.2:g.123909T>C , LRG_292:g.123909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1520T>C
ENST00000461574.2:c.1456T>C	ENSP00000417241.2:p.Phe486Leu
ENST00000470026.6:c.1456T>C	ENSP00000419274.2:p.Phe486Leu
ENST00000473961.6:c.1330T>C	ENSP00000420201.2:p.Phe444Leu
ENST00000476777.6:c.1453T>C	ENSP00000417554.2:p.Phe485Leu
ENST00000477152.6:c.1378T>C	ENSP00000419988.2:p.Phe460Leu
ENST00000478531.6:c.784+669T>C	ENSP00000420412.2:n.784+669T>C
ENST00000489037.2:c.1378T>C	ENSP00000420781.2:p.Phe460Leu
ENST00000493919.6:c.646+669T>C	ENSP00000418819.2:n.646+669T>C
ENST00000494123.6:c.1456T>C	ENSP00000419103.2:p.Phe486Leu
ENST00000497488.2:c.568T>C	ENSP00000418986.2:p.Phe190Leu
ENST00000618469.2:c.1456T>C	ENSP00000478114.2:p.Phe486Leu
ENST00000634433.2:c.1333T>C	ENSP00000489431.2:p.Phe445Leu
ENST00000644379.2:c.1456T>C	ENSP00000496570.2:p.Phe486Leu
ENST00000644555.2:c.646+669T>C	ENSP00000494614.2:n.646+669T>C
ENST00000652672.2:c.1315T>C	ENSP00000498906.2:p.Phe439Leu
ENST00000484087.6:c.664+669T>C	ENSP00000419481.2:n.664+669T>C
ENST00000700182.1:c.706+669T>C	ENSP00000514849.1:n.706+669T>C
ENST00000700183.1:c.*1464T>C	ENSP00000514850.1:n.*1464T>C
ENST00000357654.9:c.1456T>C MANE Select	ENSP00000350283.3:p.Phe486Leu
ENST00000471181.7:c.1456T>C	ENSP00000418960.2:p.Phe486Leu
ENST00000652672.1:c.1315T>C	ENSP00000498906.1:p.Phe439Leu
ENST00000352993.7:c.670+1771T>C	ENSP00000312236.5:n.670+1771T>C
ENST00000354071.7:c.1456T>C	ENSP00000326002.7:p.Phe486Leu
ENST00000357654.7:c.1456T>C	ENSP00000350283.3:p.Phe486Leu
ENST00000412061.3:c.807T>C
ENST00000461221.5:c.*1239T>C	ENSP00000418548.1:n.*1239T>C
ENST00000468300.5:c.787+669T>C	ENSP00000417148.1:n.787+669T>C
ENST00000470026.5:c.1456T>C	ENSP00000419274.1:p.Phe486Leu
ENST00000471181.6:c.1456T>C	ENSP00000418960.2:p.Phe486Leu
ENST00000477152.5:c.1378T>C	ENSP00000419988.1:p.Phe460Leu
ENST00000478531.5:c.784+669T>C	ENSP00000420412.1:n.784+669T>C
ENST00000484087.5:c.409+669T>C	ENSP00000419481.1:n.409+669T>C
ENST00000487825.5:c.412+669T>C	ENSP00000418212.1:n.412+669T>C
ENST00000491747.6:c.787+669T>C	ENSP00000420705.2:n.787+669T>C
ENST00000493795.5:c.1315T>C	ENSP00000418775.1:p.Phe439Leu
ENST00000493919.5:c.646+669T>C	ENSP00000418819.1:n.646+669T>C
ENST00000586385.5:c.5-30124T>C	ENSP00000465818.1:n.5-30124T>C
ENST00000591534.5:c.-43-19554T>C	ENSP00000467329.1:n.-43-19554T>C
ENST00000591849.5:c.-99+31196T>C	ENSP00000465347.1:n.-99+31196T>C
ENST00000634433.1:c.1333T>C	ENSP00000489431.1:p.Phe445Leu
NM_007294.3:c.1456T>C , LRG_292t1:c.1456T>C	NP_009225.1:p.Phe486Leu
NM_007297.3:c.1315T>C	NP_009228.2:p.Phe439Leu
NM_007298.3:c.787+669T>C	NP_009229.2:n.787+669T>C
NM_007299.3:c.787+669T>C	NP_009230.2:n.787+669T>C
NM_007300.3:c.1456T>C	NP_009231.2:p.Phe486Leu
NR_027676.1:n.1592T>C
NM_007294.4:c.1456T>C MANE Select	NP_009225.1:p.Phe486Leu
NM_007297.4:c.1315T>C	NP_009228.2:p.Phe439Leu
NM_007299.4:c.787+669T>C	NP_009230.2:n.787+669T>C
NM_007300.4:c.1456T>C	NP_009231.2:p.Phe486Leu
NR_027676.2:n.1633T>C