Canonical Allele Identifier: CA10591460

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 419031
• ClinVar RCV Id: RCV000486902 ; RCV001077460 ; RCV001314318
• dbSNP Id: rs1064793596
• MyVariant Identifiers: chr17:g.41219671T>A (hg19) ; chr17:g.43067654T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067654T>A , CM000679.2:g.43067654T>A	GRCh38
NC_000017.10:g.41219671T>A , CM000679.1:g.41219671T>A	GRCh37
NC_000017.9:g.38473197T>A	NCBI36
NG_005905.2:g.150330A>T , LRG_292:g.150330A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5025A>T	ENSP00000417241.2:p.Leu1675Phe
ENST00000470026.6:c.5028A>T	ENSP00000419274.2:p.Leu1676Phe
ENST00000473961.6:c.4902A>T	ENSP00000420201.2:p.Leu1634Phe
ENST00000476777.6:c.5022A>T	ENSP00000417554.2:p.Leu1674Phe
ENST00000477152.6:c.4950A>T	ENSP00000419988.2:p.Leu1650Phe
ENST00000478531.6:c.1716A>T	ENSP00000420412.2:p.Leu572Phe
ENST00000489037.2:c.4950A>T	ENSP00000420781.2:p.Leu1650Phe
ENST00000493919.6:c.1578A>T	ENSP00000418819.2:p.Leu526Phe
ENST00000494123.6:c.5028A>T	ENSP00000419103.2:p.Leu1676Phe
ENST00000497488.2:c.4140A>T	ENSP00000418986.2:p.Leu1380Phe
ENST00000618469.2:c.5028A>T	ENSP00000478114.2:p.Leu1676Phe
ENST00000634433.2:c.4905A>T	ENSP00000489431.2:p.Leu1635Phe
ENST00000644379.2:c.5094A>T	ENSP00000496570.2:p.Leu1698Phe
ENST00000644555.2:c.1578A>T	ENSP00000494614.2:p.Leu526Phe
ENST00000652672.2:c.4887A>T	ENSP00000498906.2:p.Leu1629Phe
ENST00000484087.6:c.1590A>T	ENSP00000419481.2:p.Leu530Phe
ENST00000357654.9:c.5028A>T MANE Select	ENSP00000350283.3:p.Leu1676Phe
ENST00000471181.7:c.5091A>T	ENSP00000418960.2:p.Leu1697Phe
ENST00000644379.1:c.1415A>T
ENST00000352993.7:c.1602A>T	ENSP00000312236.5:p.Leu534Phe
ENST00000357654.7:c.5028A>T	ENSP00000350283.3:p.Leu1676Phe
ENST00000461221.5:c.*4811A>T	ENSP00000418548.1:n.*4811A>T
ENST00000468300.5:c.1716A>T	ENSP00000417148.1:p.Leu572Phe
ENST00000471181.6:c.5091A>T	ENSP00000418960.2:p.Leu1697Phe
ENST00000472490.1:n.181A>T
ENST00000478531.5:c.1716A>T	ENSP00000420412.1:p.Leu572Phe
ENST00000484087.5:c.1341A>T	ENSP00000419481.1:p.Leu447Phe
ENST00000491747.6:c.1716A>T	ENSP00000420705.2:p.Leu572Phe
ENST00000493795.5:c.4887A>T	ENSP00000418775.1:p.Leu1629Phe
ENST00000493919.5:c.1578A>T	ENSP00000418819.1:p.Leu526Phe
ENST00000586385.5:c.5-3703A>T	ENSP00000465818.1:n.5-3703A>T
ENST00000591534.5:c.501A>T	ENSP00000467329.1:p.Leu167Phe
ENST00000591849.5:c.-98-17464A>T	ENSP00000465347.1:n.-98-17464A>T
NM_007294.3:c.5028A>T , LRG_292t1:c.5028A>T	NP_009225.1:p.Leu1676Phe
NM_007297.3:c.4887A>T	NP_009228.2:p.Leu1629Phe
NM_007298.3:c.1716A>T	NP_009229.2:p.Leu572Phe
NM_007299.3:c.1716A>T	NP_009230.2:p.Leu572Phe
NM_007300.3:c.5091A>T	NP_009231.2:p.Leu1697Phe
NR_027676.1:n.5164A>T
NM_007294.4:c.5028A>T MANE Select	NP_009225.1:p.Leu1676Phe
NM_007297.4:c.4887A>T	NP_009228.2:p.Leu1629Phe
NM_007299.4:c.1716A>T	NP_009230.2:p.Leu572Phe
NM_007300.4:c.5091A>T	NP_009231.2:p.Leu1697Phe
NR_027676.2:n.5205A>T