Canonical Allele Identifier: CA500146361

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427274
• ClinVar RCV Id: RCV000494929 ; RCV002341158
• dbSNP Id: rs1064793596
• MyVariant Identifiers: chr17:g.41219671T>C (hg19) ; chr17:g.43067654T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5025A>G	ENSP00000417241.2:p.Leu1675=
ENST00000470026.6:c.5028A>G	ENSP00000419274.2:p.Leu1676=
ENST00000473961.6:c.4902A>G	ENSP00000420201.2:p.Leu1634=
ENST00000476777.6:c.5022A>G	ENSP00000417554.2:p.Leu1674=
ENST00000477152.6:c.4950A>G	ENSP00000419988.2:p.Leu1650=
ENST00000478531.6:c.1716A>G	ENSP00000420412.2:p.Leu572=
ENST00000489037.2:c.4950A>G	ENSP00000420781.2:p.Leu1650=
ENST00000493919.6:c.1578A>G	ENSP00000418819.2:p.Leu526=
ENST00000494123.6:c.5028A>G	ENSP00000419103.2:p.Leu1676=
ENST00000497488.2:c.4140A>G	ENSP00000418986.2:p.Leu1380=
ENST00000618469.2:c.5028A>G	ENSP00000478114.2:p.Leu1676=
ENST00000634433.2:c.4905A>G	ENSP00000489431.2:p.Leu1635=
ENST00000644379.2:c.5094A>G	ENSP00000496570.2:p.Leu1698=
ENST00000644555.2:c.1578A>G	ENSP00000494614.2:p.Leu526=
ENST00000652672.2:c.4887A>G	ENSP00000498906.2:p.Leu1629=
ENST00000484087.6:c.1590A>G	ENSP00000419481.2:p.Leu530=
ENST00000357654.9:c.5028A>G MANE Select	ENSP00000350283.3:p.Leu1676=
ENST00000471181.7:c.5091A>G	ENSP00000418960.2:p.Leu1697=
ENST00000644379.1:c.1415A>G
ENST00000352993.7:c.1602A>G	ENSP00000312236.5:p.Leu534=
ENST00000357654.7:c.5028A>G	ENSP00000350283.3:p.Leu1676=
ENST00000461221.5:c.*4811A>G	ENSP00000418548.1:n.*4811A>G
ENST00000468300.5:c.1716A>G	ENSP00000417148.1:p.Leu572=
ENST00000471181.6:c.5091A>G	ENSP00000418960.2:p.Leu1697=
ENST00000472490.1:n.181A>G
ENST00000478531.5:c.1716A>G	ENSP00000420412.1:p.Leu572=
ENST00000484087.5:c.1341A>G	ENSP00000419481.1:p.Leu447=
ENST00000491747.6:c.1716A>G	ENSP00000420705.2:p.Leu572=
ENST00000493795.5:c.4887A>G	ENSP00000418775.1:p.Leu1629=
ENST00000493919.5:c.1578A>G	ENSP00000418819.1:p.Leu526=
ENST00000586385.5:c.5-3703A>G	ENSP00000465818.1:n.5-3703A>G
ENST00000591534.5:c.501A>G	ENSP00000467329.1:p.Leu167=
ENST00000591849.5:c.-98-17464A>G	ENSP00000465347.1:n.-98-17464A>G
NM_007294.3:c.5028A>G , LRG_292t1:c.5028A>G	NP_009225.1:p.Leu1676=
NM_007297.3:c.4887A>G	NP_009228.2:p.Leu1629=
NM_007298.3:c.1716A>G	NP_009229.2:p.Leu572=
NM_007299.3:c.1716A>G	NP_009230.2:p.Leu572=
NM_007300.3:c.5091A>G	NP_009231.2:p.Leu1697=
NR_027676.1:n.5164A>G
NM_007294.4:c.5028A>G MANE Select	NP_009225.1:p.Leu1676=
NM_007297.4:c.4887A>G	NP_009228.2:p.Leu1629=
NM_007299.4:c.1716A>G	NP_009230.2:p.Leu572=
NM_007300.4:c.5091A>G	NP_009231.2:p.Leu1697=
NR_027676.2:n.5205A>G