Canonical Allele Identifier: CA2260773042

Gene: BRCA1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4677G= MANE Select	NP_009225.1:p.Glu1559=
ENST00000357654.9:c.4677G= MANE Select	ENSP00000350283.3:p.Glu1559=
NM_007294.3:c.4677G= , LRG_292t1:c.4677G=	NP_009225.1:p.Glu1559=
NM_007297.3:c.4536G=	NP_009228.2:p.Glu1512=
NM_007297.4:c.4536G=	NP_009228.2:p.Glu1512=
NM_007298.3:c.1365G=	NP_009229.2:p.Glu455=
NM_007299.3:c.1365G=	NP_009230.2:p.Glu455=
NM_007299.4:c.1365G=	NP_009230.2:p.Glu455=
NM_007300.3:c.4740G=	NP_009231.2:p.Glu1580=
NM_007300.4:c.4740G=	NP_009231.2:p.Glu1580=
NR_027676.1:n.4813G=
NR_027676.2:n.4854G=
ENST00000352993.7:c.1251G=	ENSP00000312236.5:p.Glu417=
ENST00000357654.7:c.4677G=	ENSP00000350283.3:p.Glu1559=
ENST00000461221.5:c.*4460G=	ENSP00000418548.1:n.*4460G=
ENST00000461574.2:c.4674G=	ENSP00000417241.2:p.Glu1558=
ENST00000468300.5:c.1365G=	ENSP00000417148.1:p.Glu455=
ENST00000470026.6:c.4677G=	ENSP00000419274.2:p.Glu1559=
ENST00000471181.6:c.4740G=	ENSP00000418960.2:p.Glu1580=
ENST00000471181.7:c.4740G=	ENSP00000418960.2:p.Glu1580=
ENST00000473961.6:c.4551G=	ENSP00000420201.2:p.Glu1517=
ENST00000476777.6:c.4671G=	ENSP00000417554.2:p.Glu1557=
ENST00000477152.6:c.4599G=	ENSP00000419988.2:p.Glu1533=
ENST00000478531.5:c.1365G=	ENSP00000420412.1:p.Glu455=
ENST00000478531.6:c.1365G=	ENSP00000420412.2:p.Glu455=
ENST00000484087.5:c.990G=	ENSP00000419481.1:p.Glu330=
ENST00000484087.6:c.1239G=	ENSP00000419481.2:p.Glu413=
ENST00000489037.2:c.4599G=	ENSP00000420781.2:p.Glu1533=
ENST00000491747.6:c.1365G=	ENSP00000420705.2:p.Glu455=
ENST00000493795.5:c.4536G=	ENSP00000418775.1:p.Glu1512=
ENST00000493919.5:c.1227G=	ENSP00000418819.1:p.Glu409=
ENST00000493919.6:c.1227G=	ENSP00000418819.2:p.Glu409=
ENST00000494123.6:c.4677G=	ENSP00000419103.2:p.Glu1559=
ENST00000497488.2:c.3789G=	ENSP00000418986.2:p.Glu1263=
ENST00000586385.5:c.5-7286G=	ENSP00000465818.1:n.5-7286G=
ENST00000591534.5:c.150G=	ENSP00000467329.1:p.Glu50=
ENST00000591849.5:c.-98-21047G=	ENSP00000465347.1:n.-98-21047G=
ENST00000618469.2:c.4677G=	ENSP00000478114.2:p.Glu1559=
ENST00000634433.2:c.4554G=	ENSP00000489431.2:p.Glu1518=
ENST00000644379.1:c.1064G=
ENST00000644379.2:c.4743G=	ENSP00000496570.2:p.Glu1581=
ENST00000644555.2:c.1227G=	ENSP00000494614.2:p.Glu409=
ENST00000652672.2:c.4536G=	ENSP00000498906.2:p.Glu1512=
ENST00000700182.1:c.1284G=	ENSP00000514849.1:p.Glu428=