Canonical Allele Identifier: CA2260771343

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067637T= , CM000679.2:g.43067637T=	GRCh38
NC_000017.10:g.41219654T= , CM000679.1:g.41219654T=	GRCh37
NC_000017.9:g.38473180T=	NCBI36
NG_005905.2:g.150347A= , LRG_292:g.150347A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5042A=	ENSP00000417241.2:p.Glu1681=
ENST00000470026.6:c.5045A=	ENSP00000419274.2:p.Glu1682=
ENST00000473961.6:c.4919A=	ENSP00000420201.2:p.Glu1640=
ENST00000476777.6:c.5039A=	ENSP00000417554.2:p.Glu1680=
ENST00000477152.6:c.4967A=	ENSP00000419988.2:p.Glu1656=
ENST00000478531.6:c.1733A=	ENSP00000420412.2:p.Glu578=
ENST00000489037.2:c.4967A=	ENSP00000420781.2:p.Glu1656=
ENST00000493919.6:c.1595A=	ENSP00000418819.2:p.Glu532=
ENST00000494123.6:c.5045A=	ENSP00000419103.2:p.Glu1682=
ENST00000497488.2:c.4157A=	ENSP00000418986.2:p.Glu1386=
ENST00000618469.2:c.5045A=	ENSP00000478114.2:p.Glu1682=
ENST00000634433.2:c.4922A=	ENSP00000489431.2:p.Glu1641=
ENST00000644379.2:c.5111A=	ENSP00000496570.2:p.Glu1704=
ENST00000644555.2:c.1595A=	ENSP00000494614.2:p.Glu532=
ENST00000652672.2:c.4904A=	ENSP00000498906.2:p.Glu1635=
ENST00000484087.6:c.1607A=	ENSP00000419481.2:p.Glu536=
ENST00000357654.9:c.5045A= MANE Select	ENSP00000350283.3:p.Glu1682=
ENST00000471181.7:c.5108A=	ENSP00000418960.2:p.Glu1703=
ENST00000644379.1:c.1432A=
ENST00000352993.7:c.1619A=	ENSP00000312236.5:p.Glu540=
ENST00000357654.7:c.5045A=	ENSP00000350283.3:p.Glu1682=
ENST00000461221.5:c.*4828A=	ENSP00000418548.1:n.*4828A=
ENST00000468300.5:c.1733A=	ENSP00000417148.1:p.Glu578=
ENST00000471181.6:c.5108A=	ENSP00000418960.2:p.Glu1703=
ENST00000472490.1:n.198A=
ENST00000478531.5:c.1733A=	ENSP00000420412.1:p.Glu578=
ENST00000484087.5:c.1358A=	ENSP00000419481.1:p.Glu453=
ENST00000491747.6:c.1733A=	ENSP00000420705.2:p.Glu578=
ENST00000493795.5:c.4904A=	ENSP00000418775.1:p.Glu1635=
ENST00000493919.5:c.1595A=	ENSP00000418819.1:p.Glu532=
ENST00000586385.5:c.5-3686A=	ENSP00000465818.1:n.5-3686A=
ENST00000591534.5:c.518A=	ENSP00000467329.1:p.Glu173=
ENST00000591849.5:c.-98-17447A=	ENSP00000465347.1:n.-98-17447A=
NM_007294.3:c.5045A= , LRG_292t1:c.5045A=	NP_009225.1:p.Glu1682=
NM_007297.3:c.4904A=	NP_009228.2:p.Glu1635=
NM_007298.3:c.1733A=	NP_009229.2:p.Glu578=
NM_007299.3:c.1733A=	NP_009230.2:p.Glu578=
NM_007300.3:c.5108A=	NP_009231.2:p.Glu1703=
NR_027676.1:n.5181A=
NM_007294.4:c.5045A= MANE Select	NP_009225.1:p.Glu1682=
NM_007297.4:c.4904A=	NP_009228.2:p.Glu1635=
NM_007299.4:c.1733A=	NP_009230.2:p.Glu578=
NM_007300.4:c.5108A=	NP_009231.2:p.Glu1703=
NR_027676.2:n.5222A=