Canonical Allele Identifier: CA003082

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55318
• ClinVar RCV Id: RCV000112422 ; RCV000163234 ; RCV000235446 ; RCV001454137
• dbSNP Id: rs80357016
• gnomAD v4: 17-43070983-T-C
• MyVariant Identifiers: chr17:g.41223000T>C (hg19) ; chr17:g.43070983T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4928A>G	ENSP00000417241.2:p.Glu1643Gly
ENST00000470026.6:c.4931A>G	ENSP00000419274.2:p.Glu1644Gly
ENST00000473961.6:c.4805A>G	ENSP00000420201.2:p.Glu1602Gly
ENST00000476777.6:c.4925A>G	ENSP00000417554.2:p.Glu1642Gly
ENST00000477152.6:c.4853A>G	ENSP00000419988.2:p.Glu1618Gly
ENST00000478531.6:c.1619A>G	ENSP00000420412.2:p.Glu540Gly
ENST00000489037.2:c.4853A>G	ENSP00000420781.2:p.Glu1618Gly
ENST00000493919.6:c.1481A>G	ENSP00000418819.2:p.Glu494Gly
ENST00000494123.6:c.4931A>G	ENSP00000419103.2:p.Glu1644Gly
ENST00000497488.2:c.4043A>G	ENSP00000418986.2:p.Glu1348Gly
ENST00000618469.2:c.4931A>G	ENSP00000478114.2:p.Glu1644Gly
ENST00000634433.2:c.4808A>G	ENSP00000489431.2:p.Glu1603Gly
ENST00000644379.2:c.4997A>G	ENSP00000496570.2:p.Glu1666Gly
ENST00000644555.2:c.1481A>G	ENSP00000494614.2:p.Glu494Gly
ENST00000652672.2:c.4790A>G	ENSP00000498906.2:p.Glu1597Gly
ENST00000484087.6:c.1493A>G	ENSP00000419481.2:p.Glu498Gly
ENST00000700182.1:c.1538A>G	ENSP00000514849.1:p.Glu513Gly
ENST00000357654.9:c.4931A>G MANE Select	ENSP00000350283.3:p.Glu1644Gly
ENST00000471181.7:c.4994A>G	ENSP00000418960.2:p.Glu1665Gly
ENST00000644379.1:c.1318A>G
ENST00000352993.7:c.1505A>G	ENSP00000312236.5:p.Glu502Gly
ENST00000357654.7:c.4931A>G	ENSP00000350283.3:p.Glu1644Gly
ENST00000461221.5:c.*4714A>G	ENSP00000418548.1:n.*4714A>G
ENST00000468300.5:c.1619A>G	ENSP00000417148.1:p.Glu540Gly
ENST00000471181.6:c.4994A>G	ENSP00000418960.2:p.Glu1665Gly
ENST00000472490.1:n.84A>G
ENST00000478531.5:c.1619A>G	ENSP00000420412.1:p.Glu540Gly
ENST00000484087.5:c.1244A>G	ENSP00000419481.1:p.Glu415Gly
ENST00000491747.6:c.1619A>G	ENSP00000420705.2:p.Glu540Gly
ENST00000493795.5:c.4790A>G	ENSP00000418775.1:p.Glu1597Gly
ENST00000493919.5:c.1481A>G	ENSP00000418819.1:p.Glu494Gly
ENST00000586385.5:c.5-7032A>G	ENSP00000465818.1:n.5-7032A>G
ENST00000591534.5:c.404A>G	ENSP00000467329.1:p.Glu135Gly
ENST00000591849.5:c.-98-20793A>G	ENSP00000465347.1:n.-98-20793A>G
NM_007294.3:c.4931A>G , LRG_292t1:c.4931A>G	NP_009225.1:p.Glu1644Gly
NM_007297.3:c.4790A>G	NP_009228.2:p.Glu1597Gly
NM_007298.3:c.1619A>G	NP_009229.2:p.Glu540Gly
NM_007299.3:c.1619A>G	NP_009230.2:p.Glu540Gly
NM_007300.3:c.4994A>G	NP_009231.2:p.Glu1665Gly
NR_027676.1:n.5067A>G
NM_007294.4:c.4931A>G MANE Select	NP_009225.1:p.Glu1644Gly
NM_007297.4:c.4790A>G	NP_009228.2:p.Glu1597Gly
NM_007299.4:c.1619A>G	NP_009230.2:p.Glu540Gly
NM_007300.4:c.4994A>G	NP_009231.2:p.Glu1665Gly
NR_027676.2:n.5108A>G