Canonical Allele Identifier: CA2260777954

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082409T= , CM000679.2:g.43082409T=	GRCh38
NC_000017.10:g.41234426T= , CM000679.1:g.41234426T=	GRCh37
NC_000017.9:g.38487952T=	NCBI36
NG_005905.2:g.135575A= , LRG_292:g.135575A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4352A=	ENSP00000417241.2:p.Glu1451=
ENST00000470026.6:c.4352A=	ENSP00000419274.2:p.Glu1451=
ENST00000473961.6:c.4226A=	ENSP00000420201.2:p.Glu1409=
ENST00000476777.6:c.4346A=	ENSP00000417554.2:p.Glu1449=
ENST00000477152.6:c.4274A=	ENSP00000419988.2:p.Glu1425=
ENST00000478531.6:c.1040A=	ENSP00000420412.2:p.Glu347=
ENST00000489037.2:c.4274A=	ENSP00000420781.2:p.Glu1425=
ENST00000493919.6:c.902A=	ENSP00000418819.2:p.Glu301=
ENST00000494123.6:c.4352A=	ENSP00000419103.2:p.Glu1451=
ENST00000497488.2:c.3464A=	ENSP00000418986.2:p.Glu1155=
ENST00000618469.2:c.4352A=	ENSP00000478114.2:p.Glu1451=
ENST00000634433.2:c.4229A=	ENSP00000489431.2:p.Glu1410=
ENST00000644379.2:c.4352A=	ENSP00000496570.2:p.Glu1451=
ENST00000644555.2:c.902A=	ENSP00000494614.2:p.Glu301=
ENST00000652672.2:c.4211A=	ENSP00000498906.2:p.Glu1404=
ENST00000484087.6:c.917A=	ENSP00000419481.2:p.Glu306=
ENST00000700182.1:c.962A=	ENSP00000514849.1:p.Glu321=
ENST00000357654.9:c.4352A= MANE Select	ENSP00000350283.3:p.Glu1451=
ENST00000471181.7:c.4352A=	ENSP00000418960.2:p.Glu1451=
ENST00000644379.1:c.673A=
ENST00000352993.7:c.926A=	ENSP00000312236.5:p.Glu309=
ENST00000357654.7:c.4352A=	ENSP00000350283.3:p.Glu1451=
ENST00000461221.5:c.*4135A=	ENSP00000418548.1:n.*4135A=
ENST00000461574.1:c.646A=
ENST00000468300.5:c.1043A=	ENSP00000417148.1:p.Glu348=
ENST00000471181.6:c.4352A=	ENSP00000418960.2:p.Glu1451=
ENST00000478531.5:c.1040A=	ENSP00000420412.1:p.Glu347=
ENST00000484087.5:c.665A=	ENSP00000419481.1:p.Glu222=
ENST00000487825.5:c.668A=	ENSP00000418212.1:p.Glu223=
ENST00000491747.6:c.1043A=	ENSP00000420705.2:p.Glu348=
ENST00000493795.5:c.4211A=	ENSP00000418775.1:p.Glu1404=
ENST00000493919.5:c.902A=	ENSP00000418819.1:p.Glu301=
ENST00000586385.5:c.5-18458A=	ENSP00000465818.1:n.5-18458A=
ENST00000591534.5:c.-43-7888A=	ENSP00000467329.1:n.-43-7888A=
ENST00000591849.5:c.-98-32219A=	ENSP00000465347.1:n.-98-32219A=
ENST00000621897.1:n.246A=
NM_007294.3:c.4352A= , LRG_292t1:c.4352A=	NP_009225.1:p.Glu1451=
NM_007297.3:c.4211A=	NP_009228.2:p.Glu1404=
NM_007298.3:c.1043A=	NP_009229.2:p.Glu348=
NM_007299.3:c.1043A=	NP_009230.2:p.Glu348=
NM_007300.3:c.4352A=	NP_009231.2:p.Glu1451=
NR_027676.1:n.4488A=
NM_007294.4:c.4352A= MANE Select	NP_009225.1:p.Glu1451=
NM_007297.4:c.4211A=	NP_009228.2:p.Glu1404=
NM_007299.4:c.1043A=	NP_009230.2:p.Glu348=
NM_007300.4:c.4352A=	NP_009231.2:p.Glu1451=
NR_027676.2:n.4529A=