Canonical Allele Identifier: CA2260772740

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070934T= , CM000679.2:g.43070934T=	GRCh38
NC_000017.10:g.41222951T= , CM000679.1:g.41222951T=	GRCh37
NC_000017.9:g.38476477T=	NCBI36
NG_005905.2:g.147050A= , LRG_292:g.147050A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4977A=	ENSP00000417241.2:p.Glu1659=
ENST00000470026.6:c.4980A=	ENSP00000419274.2:p.Glu1660=
ENST00000473961.6:c.4854A=	ENSP00000420201.2:p.Glu1618=
ENST00000476777.6:c.4974A=	ENSP00000417554.2:p.Glu1658=
ENST00000477152.6:c.4902A=	ENSP00000419988.2:p.Glu1634=
ENST00000478531.6:c.1668A=	ENSP00000420412.2:p.Glu556=
ENST00000489037.2:c.4902A=	ENSP00000420781.2:p.Glu1634=
ENST00000493919.6:c.1530A=	ENSP00000418819.2:p.Glu510=
ENST00000494123.6:c.4980A=	ENSP00000419103.2:p.Glu1660=
ENST00000497488.2:c.4092A=	ENSP00000418986.2:p.Glu1364=
ENST00000618469.2:c.4980A=	ENSP00000478114.2:p.Glu1660=
ENST00000634433.2:c.4857A=	ENSP00000489431.2:p.Glu1619=
ENST00000644379.2:c.5046A=	ENSP00000496570.2:p.Glu1682=
ENST00000644555.2:c.1530A=	ENSP00000494614.2:p.Glu510=
ENST00000652672.2:c.4839A=	ENSP00000498906.2:p.Glu1613=
ENST00000484087.6:c.1542A=	ENSP00000419481.2:p.Glu514=
ENST00000700182.1:c.1587A=	ENSP00000514849.1:p.Glu529=
ENST00000357654.9:c.4980A= MANE Select	ENSP00000350283.3:p.Glu1660=
ENST00000471181.7:c.5043A=	ENSP00000418960.2:p.Glu1681=
ENST00000644379.1:c.1367A=
ENST00000352993.7:c.1554A=	ENSP00000312236.5:p.Glu518=
ENST00000357654.7:c.4980A=	ENSP00000350283.3:p.Glu1660=
ENST00000461221.5:c.*4763A=	ENSP00000418548.1:n.*4763A=
ENST00000468300.5:c.1668A=	ENSP00000417148.1:p.Glu556=
ENST00000471181.6:c.5043A=	ENSP00000418960.2:p.Glu1681=
ENST00000472490.1:n.133A=
ENST00000478531.5:c.1668A=	ENSP00000420412.1:p.Glu556=
ENST00000484087.5:c.1293A=	ENSP00000419481.1:p.Glu431=
ENST00000491747.6:c.1668A=	ENSP00000420705.2:p.Glu556=
ENST00000493795.5:c.4839A=	ENSP00000418775.1:p.Glu1613=
ENST00000493919.5:c.1530A=	ENSP00000418819.1:p.Glu510=
ENST00000586385.5:c.5-6983A=	ENSP00000465818.1:n.5-6983A=
ENST00000591534.5:c.453A=	ENSP00000467329.1:p.Glu151=
ENST00000591849.5:c.-98-20744A=	ENSP00000465347.1:n.-98-20744A=
NM_007294.3:c.4980A= , LRG_292t1:c.4980A=	NP_009225.1:p.Glu1660=
NM_007297.3:c.4839A=	NP_009228.2:p.Glu1613=
NM_007298.3:c.1668A=	NP_009229.2:p.Glu556=
NM_007299.3:c.1668A=	NP_009230.2:p.Glu556=
NM_007300.3:c.5043A=	NP_009231.2:p.Glu1681=
NR_027676.1:n.5116A=
NM_007294.4:c.4980A= MANE Select	NP_009225.1:p.Glu1660=
NM_007297.4:c.4839A=	NP_009228.2:p.Glu1613=
NM_007299.4:c.1668A=	NP_009230.2:p.Glu556=
NM_007300.4:c.5043A=	NP_009231.2:p.Glu1681=
NR_027676.2:n.5157A=