Canonical Allele Identifier: CA002875

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37597
• ClinVar RCV Id: RCV000031178 ; RCV000162878 ; RCV000479568 ; RCV001389264 ; RCV001357179 ; RCV002250476
• dbSNP Id: rs80357389
• MyVariant Identifiers: chr17:g.41228505C>T (hg19) ; chr17:g.43076488C>T (hg38)
• PubMed: PMID:19471317 ; PMID:21523855 ; PMID:22505045 ; PMID:22711857 ; PMID:22762150 ; PMID:23633455 ; PMID:23704879

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076488C>T , CM000679.2:g.43076488C>T	GRCh38
NC_000017.10:g.41228505C>T , CM000679.1:g.41228505C>T	GRCh37
NC_000017.9:g.38482031C>T	NCBI36
NG_005905.2:g.141496G>A , LRG_292:g.141496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4481G>A	ENSP00000417241.2:p.Arg1494Lys
ENST00000470026.6:c.4484G>A	ENSP00000419274.2:p.Arg1495Lys
ENST00000473961.6:c.4358G>A	ENSP00000420201.2:p.Arg1453Lys
ENST00000476777.6:c.4478G>A	ENSP00000417554.2:p.Arg1493Lys
ENST00000477152.6:c.4406G>A	ENSP00000419988.2:p.Arg1469Lys
ENST00000478531.6:c.1172G>A	ENSP00000420412.2:p.Arg391Lys
ENST00000489037.2:c.4406G>A	ENSP00000420781.2:p.Arg1469Lys
ENST00000493919.6:c.1034G>A	ENSP00000418819.2:p.Arg345Lys
ENST00000494123.6:c.4484G>A	ENSP00000419103.2:p.Arg1495Lys
ENST00000497488.2:c.3596G>A	ENSP00000418986.2:p.Arg1199Lys
ENST00000618469.2:c.4484G>A	ENSP00000478114.2:p.Arg1495Lys
ENST00000634433.2:c.4361G>A	ENSP00000489431.2:p.Arg1454Lys
ENST00000644379.2:c.4550G>A	ENSP00000496570.2:p.Arg1517Lys
ENST00000644555.2:c.1034G>A	ENSP00000494614.2:p.Arg345Lys
ENST00000652672.2:c.4343G>A	ENSP00000498906.2:p.Arg1448Lys
ENST00000484087.6:c.1046G>A	ENSP00000419481.2:p.Arg349Lys
ENST00000700182.1:c.1091G>A	ENSP00000514849.1:p.Arg364Lys
ENST00000357654.9:c.4484G>A MANE Select	ENSP00000350283.3:p.Arg1495Lys
ENST00000471181.7:c.4547G>A	ENSP00000418960.2:p.Arg1516Lys
ENST00000644379.1:c.871G>A
ENST00000352993.7:c.1058G>A	ENSP00000312236.5:p.Arg353Lys
ENST00000357654.7:c.4484G>A	ENSP00000350283.3:p.Arg1495Lys
ENST00000461221.5:c.*4267G>A	ENSP00000418548.1:n.*4267G>A
ENST00000468300.5:c.1172G>A	ENSP00000417148.1:p.Arg391Lys
ENST00000471181.6:c.4547G>A	ENSP00000418960.2:p.Arg1516Lys
ENST00000478531.5:c.1172G>A	ENSP00000420412.1:p.Arg391Lys
ENST00000484087.5:c.797G>A	ENSP00000419481.1:p.Arg266Lys
ENST00000487825.5:c.800G>A
ENST00000491747.6:c.1172G>A	ENSP00000420705.2:p.Arg391Lys
ENST00000493795.5:c.4343G>A	ENSP00000418775.1:p.Arg1448Lys
ENST00000493919.5:c.1034G>A	ENSP00000418819.1:p.Arg345Lys
ENST00000586385.5:c.5-12537G>A	ENSP00000465818.1:n.5-12537G>A
ENST00000591534.5:c.-43-1967G>A	ENSP00000467329.1:n.-43-1967G>A
ENST00000591849.5:c.-98-26298G>A	ENSP00000465347.1:n.-98-26298G>A
ENST00000621897.1:n.375G>A
NM_007294.3:c.4484G>A , LRG_292t1:c.4484G>A	NP_009225.1:p.Arg1495Lys
NM_007297.3:c.4343G>A	NP_009228.2:p.Arg1448Lys
NM_007298.3:c.1172G>A	NP_009229.2:p.Arg391Lys
NM_007299.3:c.1172G>A	NP_009230.2:p.Arg391Lys
NM_007300.3:c.4547G>A	NP_009231.2:p.Arg1516Lys
NR_027676.1:n.4620G>A
NM_007294.4:c.4484G>A MANE Select	NP_009225.1:p.Arg1495Lys
NM_007297.4:c.4343G>A	NP_009228.2:p.Arg1448Lys
NM_007299.4:c.1172G>A	NP_009230.2:p.Arg391Lys
NM_007300.4:c.4547G>A	NP_009231.2:p.Arg1516Lys
NR_027676.2:n.4661G>A