Canonical Allele Identifier: CA10591661

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865698
• ClinVar RCV Id: RCV001073166
• dbSNP Id: rs80357016
• MyVariant Identifiers: chr17:g.41223000T>G (hg19) ; chr17:g.43070983T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070983T>G , CM000679.2:g.43070983T>G	GRCh38
NC_000017.10:g.41223000T>G , CM000679.1:g.41223000T>G	GRCh37
NC_000017.9:g.38476526T>G	NCBI36
NG_005905.2:g.147001A>C , LRG_292:g.147001A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4928A>C	ENSP00000417241.2:p.Glu1643Ala
ENST00000470026.6:c.4931A>C	ENSP00000419274.2:p.Glu1644Ala
ENST00000473961.6:c.4805A>C	ENSP00000420201.2:p.Glu1602Ala
ENST00000476777.6:c.4925A>C	ENSP00000417554.2:p.Glu1642Ala
ENST00000477152.6:c.4853A>C	ENSP00000419988.2:p.Glu1618Ala
ENST00000478531.6:c.1619A>C	ENSP00000420412.2:p.Glu540Ala
ENST00000489037.2:c.4853A>C	ENSP00000420781.2:p.Glu1618Ala
ENST00000493919.6:c.1481A>C	ENSP00000418819.2:p.Glu494Ala
ENST00000494123.6:c.4931A>C	ENSP00000419103.2:p.Glu1644Ala
ENST00000497488.2:c.4043A>C	ENSP00000418986.2:p.Glu1348Ala
ENST00000618469.2:c.4931A>C	ENSP00000478114.2:p.Glu1644Ala
ENST00000634433.2:c.4808A>C	ENSP00000489431.2:p.Glu1603Ala
ENST00000644379.2:c.4997A>C	ENSP00000496570.2:p.Glu1666Ala
ENST00000644555.2:c.1481A>C	ENSP00000494614.2:p.Glu494Ala
ENST00000652672.2:c.4790A>C	ENSP00000498906.2:p.Glu1597Ala
ENST00000484087.6:c.1493A>C	ENSP00000419481.2:p.Glu498Ala
ENST00000700182.1:c.1538A>C	ENSP00000514849.1:p.Glu513Ala
ENST00000357654.9:c.4931A>C MANE Select	ENSP00000350283.3:p.Glu1644Ala
ENST00000471181.7:c.4994A>C	ENSP00000418960.2:p.Glu1665Ala
ENST00000644379.1:c.1318A>C
ENST00000352993.7:c.1505A>C	ENSP00000312236.5:p.Glu502Ala
ENST00000357654.7:c.4931A>C	ENSP00000350283.3:p.Glu1644Ala
ENST00000461221.5:c.*4714A>C	ENSP00000418548.1:n.*4714A>C
ENST00000468300.5:c.1619A>C	ENSP00000417148.1:p.Glu540Ala
ENST00000471181.6:c.4994A>C	ENSP00000418960.2:p.Glu1665Ala
ENST00000472490.1:n.84A>C
ENST00000478531.5:c.1619A>C	ENSP00000420412.1:p.Glu540Ala
ENST00000484087.5:c.1244A>C	ENSP00000419481.1:p.Glu415Ala
ENST00000491747.6:c.1619A>C	ENSP00000420705.2:p.Glu540Ala
ENST00000493795.5:c.4790A>C	ENSP00000418775.1:p.Glu1597Ala
ENST00000493919.5:c.1481A>C	ENSP00000418819.1:p.Glu494Ala
ENST00000586385.5:c.5-7032A>C	ENSP00000465818.1:n.5-7032A>C
ENST00000591534.5:c.404A>C	ENSP00000467329.1:p.Glu135Ala
ENST00000591849.5:c.-98-20793A>C	ENSP00000465347.1:n.-98-20793A>C
NM_007294.3:c.4931A>C , LRG_292t1:c.4931A>C	NP_009225.1:p.Glu1644Ala
NM_007297.3:c.4790A>C	NP_009228.2:p.Glu1597Ala
NM_007298.3:c.1619A>C	NP_009229.2:p.Glu540Ala
NM_007299.3:c.1619A>C	NP_009230.2:p.Glu540Ala
NM_007300.3:c.4994A>C	NP_009231.2:p.Glu1665Ala
NR_027676.1:n.5067A>C
NM_007294.4:c.4931A>C MANE Select	NP_009225.1:p.Glu1644Ala
NM_007297.4:c.4790A>C	NP_009228.2:p.Glu1597Ala
NM_007299.4:c.1619A>C	NP_009230.2:p.Glu540Ala
NM_007300.4:c.4994A>C	NP_009231.2:p.Glu1665Ala
NR_027676.2:n.5108A>C