Canonical Allele Identifier: CA2260774471

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074388C= , CM000679.2:g.43074388C=	GRCh38
NC_000017.10:g.41226405C= , CM000679.1:g.41226405C=	GRCh37
NC_000017.9:g.38479931C=	NCBI36
NG_005905.2:g.143596G= , LRG_292:g.143596G=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4618G= MANE Select	NP_009225.1:p.Glu1540=
ENST00000357654.9:c.4618G= MANE Select	ENSP00000350283.3:p.Glu1540=
NM_007294.3:c.4618G= , LRG_292t1:c.4618G=	NP_009225.1:p.Glu1540=
NM_007297.3:c.4477G=	NP_009228.2:p.Glu1493=
NM_007297.4:c.4477G=	NP_009228.2:p.Glu1493=
NM_007298.3:c.1306G=	NP_009229.2:p.Glu436=
NM_007299.3:c.1306G=	NP_009230.2:p.Glu436=
NM_007299.4:c.1306G=	NP_009230.2:p.Glu436=
NM_007300.3:c.4681G=	NP_009231.2:p.Glu1561=
NM_007300.4:c.4681G=	NP_009231.2:p.Glu1561=
NR_027676.1:n.4754G=
NR_027676.2:n.4795G=
ENST00000352993.7:c.1192G=	ENSP00000312236.5:p.Glu398=
ENST00000357654.7:c.4618G=	ENSP00000350283.3:p.Glu1540=
ENST00000461221.5:c.*4401G=	ENSP00000418548.1:n.*4401G=
ENST00000461574.2:c.4615G=	ENSP00000417241.2:p.Glu1539=
ENST00000468300.5:c.1306G=	ENSP00000417148.1:p.Glu436=
ENST00000470026.6:c.4618G=	ENSP00000419274.2:p.Glu1540=
ENST00000471181.6:c.4681G=	ENSP00000418960.2:p.Glu1561=
ENST00000471181.7:c.4681G=	ENSP00000418960.2:p.Glu1561=
ENST00000473961.6:c.4492G=	ENSP00000420201.2:p.Glu1498=
ENST00000476777.6:c.4612G=	ENSP00000417554.2:p.Glu1538=
ENST00000477152.6:c.4540G=	ENSP00000419988.2:p.Glu1514=
ENST00000478531.5:c.1306G=	ENSP00000420412.1:p.Glu436=
ENST00000478531.6:c.1306G=	ENSP00000420412.2:p.Glu436=
ENST00000484087.5:c.931G=	ENSP00000419481.1:p.Glu311=
ENST00000484087.6:c.1180G=	ENSP00000419481.2:p.Glu394=
ENST00000489037.2:c.4540G=	ENSP00000420781.2:p.Glu1514=
ENST00000491747.6:c.1306G=	ENSP00000420705.2:p.Glu436=
ENST00000493795.5:c.4477G=	ENSP00000418775.1:p.Glu1493=
ENST00000493919.5:c.1168G=	ENSP00000418819.1:p.Glu390=
ENST00000493919.6:c.1168G=	ENSP00000418819.2:p.Glu390=
ENST00000494123.6:c.4618G=	ENSP00000419103.2:p.Glu1540=
ENST00000497488.2:c.3730G=	ENSP00000418986.2:p.Glu1244=
ENST00000586385.5:c.5-10437G=	ENSP00000465818.1:n.5-10437G=
ENST00000591534.5:c.91G=	ENSP00000467329.1:p.Glu31=
ENST00000591849.5:c.-98-24198G=	ENSP00000465347.1:n.-98-24198G=
ENST00000618469.2:c.4618G=	ENSP00000478114.2:p.Glu1540=
ENST00000634433.2:c.4495G=	ENSP00000489431.2:p.Glu1499=
ENST00000644379.1:c.1005G=
ENST00000644379.2:c.4684G=	ENSP00000496570.2:p.Glu1562=
ENST00000644555.2:c.1168G=	ENSP00000494614.2:p.Glu390=
ENST00000652672.2:c.4477G=	ENSP00000498906.2:p.Glu1493=
ENST00000700182.1:c.1225G=	ENSP00000514849.1:p.Glu409=