Canonical Allele Identifier: CA002972

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071237C>G , CM000679.2:g.43071237C>G	GRCh38
NC_000017.10:g.41223254C>G , CM000679.1:g.41223254C>G	GRCh37
NC_000017.9:g.38476780C>G	NCBI36
NG_005905.2:g.146747G>C , LRG_292:g.146747G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4677G>C MANE Select	NP_009225.1:p.Glu1559Asp
ENST00000357654.9:c.4677G>C MANE Select	ENSP00000350283.3:p.Glu1559Asp
NM_007294.3:c.4677G>C , LRG_292t1:c.4677G>C	NP_009225.1:p.Glu1559Asp
NM_007297.3:c.4536G>C	NP_009228.2:p.Glu1512Asp
NM_007297.4:c.4536G>C	NP_009228.2:p.Glu1512Asp
NM_007298.3:c.1365G>C	NP_009229.2:p.Glu455Asp
NM_007299.3:c.1365G>C	NP_009230.2:p.Glu455Asp
NM_007299.4:c.1365G>C	NP_009230.2:p.Glu455Asp
NM_007300.3:c.4740G>C	NP_009231.2:p.Glu1580Asp
NM_007300.4:c.4740G>C	NP_009231.2:p.Glu1580Asp
NR_027676.1:n.4813G>C
NR_027676.2:n.4854G>C
ENST00000352993.7:c.1251G>C	ENSP00000312236.5:p.Glu417Asp
ENST00000357654.7:c.4677G>C	ENSP00000350283.3:p.Glu1559Asp
ENST00000461221.5:c.*4460G>C	ENSP00000418548.1:n.*4460G>C
ENST00000461574.2:c.4674G>C	ENSP00000417241.2:p.Glu1558Asp
ENST00000468300.5:c.1365G>C	ENSP00000417148.1:p.Glu455Asp
ENST00000470026.6:c.4677G>C	ENSP00000419274.2:p.Glu1559Asp
ENST00000471181.6:c.4740G>C	ENSP00000418960.2:p.Glu1580Asp
ENST00000471181.7:c.4740G>C	ENSP00000418960.2:p.Glu1580Asp
ENST00000473961.6:c.4551G>C	ENSP00000420201.2:p.Glu1517Asp
ENST00000476777.6:c.4671G>C	ENSP00000417554.2:p.Glu1557Asp
ENST00000477152.6:c.4599G>C	ENSP00000419988.2:p.Glu1533Asp
ENST00000478531.5:c.1365G>C	ENSP00000420412.1:p.Glu455Asp
ENST00000478531.6:c.1365G>C	ENSP00000420412.2:p.Glu455Asp
ENST00000484087.5:c.990G>C	ENSP00000419481.1:p.Glu330Asp
ENST00000484087.6:c.1239G>C	ENSP00000419481.2:p.Glu413Asp
ENST00000489037.2:c.4599G>C	ENSP00000420781.2:p.Glu1533Asp
ENST00000491747.6:c.1365G>C	ENSP00000420705.2:p.Glu455Asp
ENST00000493795.5:c.4536G>C	ENSP00000418775.1:p.Glu1512Asp
ENST00000493919.5:c.1227G>C	ENSP00000418819.1:p.Glu409Asp
ENST00000493919.6:c.1227G>C	ENSP00000418819.2:p.Glu409Asp
ENST00000494123.6:c.4677G>C	ENSP00000419103.2:p.Glu1559Asp
ENST00000497488.2:c.3789G>C	ENSP00000418986.2:p.Glu1263Asp
ENST00000586385.5:c.5-7286G>C	ENSP00000465818.1:n.5-7286G>C
ENST00000591534.5:c.150G>C	ENSP00000467329.1:p.Glu50Asp
ENST00000591849.5:c.-98-21047G>C	ENSP00000465347.1:n.-98-21047G>C
ENST00000618469.2:c.4677G>C	ENSP00000478114.2:p.Glu1559Asp
ENST00000634433.2:c.4554G>C	ENSP00000489431.2:p.Glu1518Asp
ENST00000644379.1:c.1064G>C
ENST00000644379.2:c.4743G>C	ENSP00000496570.2:p.Glu1581Asp
ENST00000644555.2:c.1227G>C	ENSP00000494614.2:p.Glu409Asp
ENST00000652672.2:c.4536G>C	ENSP00000498906.2:p.Glu1512Asp
ENST00000700182.1:c.1284G>C	ENSP00000514849.1:p.Glu428Asp