Canonical Allele Identifier: CA2260782159

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091680T= , CM000679.2:g.43091680T=	GRCh38
NC_000017.10:g.41243697T= , CM000679.1:g.41243697T=	GRCh37
NC_000017.9:g.38497223T=	NCBI36
NG_005905.2:g.126304A= , LRG_292:g.126304A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3915A=
ENST00000461574.2:c.3851A=	ENSP00000417241.2:p.His1284=
ENST00000470026.6:c.3851A=	ENSP00000419274.2:p.His1284=
ENST00000473961.6:c.3725A=	ENSP00000420201.2:p.His1242=
ENST00000476777.6:c.3848A=	ENSP00000417554.2:p.His1283=
ENST00000477152.6:c.3773A=	ENSP00000419988.2:p.His1258=
ENST00000478531.6:c.785-648A=	ENSP00000420412.2:n.785-648A=
ENST00000489037.2:c.3773A=	ENSP00000420781.2:p.His1258=
ENST00000493919.6:c.647-648A=	ENSP00000418819.2:n.647-648A=
ENST00000494123.6:c.3851A=	ENSP00000419103.2:p.His1284=
ENST00000497488.2:c.2963A=	ENSP00000418986.2:p.His988=
ENST00000618469.2:c.3851A=	ENSP00000478114.2:p.His1284=
ENST00000634433.2:c.3728A=	ENSP00000489431.2:p.His1243=
ENST00000644379.2:c.3851A=	ENSP00000496570.2:p.His1284=
ENST00000644555.2:c.647-648A=	ENSP00000494614.2:n.647-648A=
ENST00000652672.2:c.3710A=	ENSP00000498906.2:p.His1237=
ENST00000484087.6:c.665-648A=	ENSP00000419481.2:n.665-648A=
ENST00000700182.1:c.707-648A=	ENSP00000514849.1:n.707-648A=
ENST00000357654.9:c.3851A= MANE Select	ENSP00000350283.3:p.His1284=
ENST00000471181.7:c.3851A=	ENSP00000418960.2:p.His1284=
ENST00000644379.1:c.172A=
ENST00000352993.7:c.671-648A=	ENSP00000312236.5:n.671-648A=
ENST00000354071.7:c.3851A=	ENSP00000326002.7:p.His1284=
ENST00000357654.7:c.3851A=	ENSP00000350283.3:p.His1284=
ENST00000461221.5:c.*3634A=	ENSP00000418548.1:n.*3634A=
ENST00000461574.1:c.145A=
ENST00000468300.5:c.788-648A=	ENSP00000417148.1:n.788-648A=
ENST00000471181.6:c.3851A=	ENSP00000418960.2:p.His1284=
ENST00000478531.5:c.785-648A=	ENSP00000420412.1:n.785-648A=
ENST00000484087.5:c.410-648A=	ENSP00000419481.1:n.410-648A=
ENST00000487825.5:c.413-648A=	ENSP00000418212.1:n.413-648A=
ENST00000491747.6:c.788-648A=	ENSP00000420705.2:n.788-648A=
ENST00000493795.5:c.3710A=	ENSP00000418775.1:p.His1237=
ENST00000493919.5:c.647-648A=	ENSP00000418819.1:n.647-648A=
ENST00000586385.5:c.5-27729A=	ENSP00000465818.1:n.5-27729A=
ENST00000591534.5:c.-43-17159A=	ENSP00000467329.1:n.-43-17159A=
ENST00000591849.5:c.-99+33591A=	ENSP00000465347.1:n.-99+33591A=
NM_007294.3:c.3851A= , LRG_292t1:c.3851A=	NP_009225.1:p.His1284=
NM_007297.3:c.3710A=	NP_009228.2:p.His1237=
NM_007298.3:c.788-648A=	NP_009229.2:n.788-648A=
NM_007299.3:c.788-648A=	NP_009230.2:n.788-648A=
NM_007300.3:c.3851A=	NP_009231.2:p.His1284=
NR_027676.1:n.3987A=
NM_007294.4:c.3851A= MANE Select	NP_009225.1:p.His1284=
NM_007297.4:c.3710A=	NP_009228.2:p.His1237=
NM_007299.4:c.788-648A=	NP_009230.2:n.788-648A=
NM_007300.4:c.3851A=	NP_009231.2:p.His1284=
NR_027676.2:n.4028A=