Canonical Allele Identifier: CA003515

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55545
• ClinVar RCV Id: RCV000048953 ; RCV000112627 ; RCV000220027 ; RCV000590089 ; RCV002267825 ; RCV002250545
• dbSNP Id: rs80357012
• ExAC: 17:41201197 T / G
• gnomAD v2: 17-41201197-T-G
• gnomAD v3: 17-43049180-T-G
• gnomAD v4: 17-43049180-T-G
• MyVariant Identifiers: chr17:g.41201197T>G (hg19) ; chr17:g.43049180T>G (hg38)
• PubMed: PMID:9799248 ; PMID:10923033 ; PMID:11016938 ; PMID:15004537 ; PMID:15385441 ; PMID:16267036 ; PMID:17305420 ; PMID:20516115 ; PMID:21447777 ; PMID:25646469 ; PMID:26689913

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049180T>G , CM000679.2:g.43049180T>G	GRCh38
NC_000017.10:g.41201197T>G , CM000679.1:g.41201197T>G	GRCh37
NC_000017.9:g.38454723T>G	NCBI36
NG_005905.2:g.168804A>C , LRG_292:g.168804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5344A>C	ENSP00000417241.2:p.Met1782Leu
ENST00000470026.6:c.5347A>C	ENSP00000419274.2:p.Met1783Leu
ENST00000473961.6:c.5221A>C	ENSP00000420201.2:p.Met1741Leu
ENST00000476777.6:c.5341A>C	ENSP00000417554.2:p.Met1781Leu
ENST00000477152.6:c.5269A>C	ENSP00000419988.2:p.Met1757Leu
ENST00000478531.6:c.2035A>C	ENSP00000420412.2:p.Met679Leu
ENST00000489037.2:c.5269A>C	ENSP00000420781.2:p.Met1757Leu
ENST00000493919.6:c.1897A>C	ENSP00000418819.2:p.Met633Leu
ENST00000494123.6:c.5347A>C	ENSP00000419103.2:p.Met1783Leu
ENST00000497488.2:c.4459A>C	ENSP00000418986.2:p.Met1487Leu
ENST00000618469.2:c.5347A>C	ENSP00000478114.2:p.Met1783Leu
ENST00000634433.2:c.5224A>C	ENSP00000489431.2:p.Met1742Leu
ENST00000644379.2:c.5413A>C	ENSP00000496570.2:p.Met1805Leu
ENST00000644555.2:c.1897A>C	ENSP00000494614.2:p.Met633Leu
ENST00000652672.2:c.5206A>C	ENSP00000498906.2:p.Met1736Leu
ENST00000484087.6:c.1909A>C	ENSP00000419481.2:p.Met637Leu
ENST00000700081.1:n.1230A>C
ENST00000357654.9:c.5347A>C MANE Select	ENSP00000350283.3:p.Met1783Leu
ENST00000471181.7:c.5410A>C	ENSP00000418960.2:p.Met1804Leu
ENST00000644379.1:c.1734A>C
ENST00000352993.7:c.1921A>C	ENSP00000312236.5:p.Met641Leu
ENST00000357654.7:c.5347A>C	ENSP00000350283.3:p.Met1783Leu
ENST00000461221.5:c.*5130A>C	ENSP00000418548.1:n.*5130A>C
ENST00000468300.5:c.2021-1477A>C	ENSP00000417148.1:n.2021-1477A>C
ENST00000471181.6:c.5410A>C	ENSP00000418960.2:p.Met1804Leu
ENST00000491747.6:c.2035A>C	ENSP00000420705.2:p.Met679Leu
ENST00000493795.5:c.5206A>C	ENSP00000418775.1:p.Met1736Leu
ENST00000586385.5:c.277A>C	ENSP00000465818.1:p.Met93Leu
ENST00000591534.5:c.820A>C	ENSP00000467329.1:p.Met274Leu
ENST00000591849.5:c.46A>C	ENSP00000465347.1:p.Met16Leu
NM_007294.3:c.5347A>C , LRG_292t1:c.5347A>C	NP_009225.1:p.Met1783Leu
NM_007297.3:c.5206A>C	NP_009228.2:p.Met1736Leu
NM_007298.3:c.2035A>C	NP_009229.2:p.Met679Leu
NM_007299.3:c.2021-1477A>C	NP_009230.2:n.2021-1477A>C
NM_007300.3:c.5410A>C	NP_009231.2:p.Met1804Leu
NR_027676.1:n.5483A>C
NM_007294.4:c.5347A>C MANE Select	NP_009225.1:p.Met1783Leu
NM_007297.4:c.5206A>C	NP_009228.2:p.Met1736Leu
NM_007299.4:c.2021-1477A>C	NP_009230.2:n.2021-1477A>C
NM_007300.4:c.5410A>C	NP_009231.2:p.Met1804Leu
NR_027676.2:n.5524A>C