Canonical Allele Identifier: CA2260782014

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091535T= , CM000679.2:g.43091535T=	GRCh38
NC_000017.10:g.41243552T= , CM000679.1:g.41243552T=	GRCh37
NC_000017.9:g.38497078T=	NCBI36
NG_005905.2:g.126449A= , LRG_292:g.126449A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4060A=
ENST00000461574.2:c.3996A=	ENSP00000417241.2:p.Gly1332=
ENST00000470026.6:c.3996A=	ENSP00000419274.2:p.Gly1332=
ENST00000473961.6:c.3870A=	ENSP00000420201.2:p.Gly1290=
ENST00000476777.6:c.3993A=	ENSP00000417554.2:p.Gly1331=
ENST00000477152.6:c.3918A=	ENSP00000419988.2:p.Gly1306=
ENST00000478531.6:c.785-503A=	ENSP00000420412.2:n.785-503A=
ENST00000489037.2:c.3918A=	ENSP00000420781.2:p.Gly1306=
ENST00000493919.6:c.647-503A=	ENSP00000418819.2:n.647-503A=
ENST00000494123.6:c.3996A=	ENSP00000419103.2:p.Gly1332=
ENST00000497488.2:c.3108A=	ENSP00000418986.2:p.Gly1036=
ENST00000618469.2:c.3996A=	ENSP00000478114.2:p.Gly1332=
ENST00000634433.2:c.3873A=	ENSP00000489431.2:p.Gly1291=
ENST00000644379.2:c.3996A=	ENSP00000496570.2:p.Gly1332=
ENST00000644555.2:c.647-503A=	ENSP00000494614.2:n.647-503A=
ENST00000652672.2:c.3855A=	ENSP00000498906.2:p.Gly1285=
ENST00000484087.6:c.665-503A=	ENSP00000419481.2:n.665-503A=
ENST00000700182.1:c.707-503A=	ENSP00000514849.1:n.707-503A=
ENST00000357654.9:c.3996A= MANE Select	ENSP00000350283.3:p.Gly1332=
ENST00000471181.7:c.3996A=	ENSP00000418960.2:p.Gly1332=
ENST00000644379.1:c.317A=
ENST00000352993.7:c.671-503A=	ENSP00000312236.5:n.671-503A=
ENST00000354071.7:c.3996A=	ENSP00000326002.7:p.Gly1332=
ENST00000357654.7:c.3996A=	ENSP00000350283.3:p.Gly1332=
ENST00000461221.5:c.*3779A=	ENSP00000418548.1:n.*3779A=
ENST00000461574.1:c.290A=
ENST00000468300.5:c.788-503A=	ENSP00000417148.1:n.788-503A=
ENST00000471181.6:c.3996A=	ENSP00000418960.2:p.Gly1332=
ENST00000478531.5:c.785-503A=	ENSP00000420412.1:n.785-503A=
ENST00000484087.5:c.410-503A=	ENSP00000419481.1:n.410-503A=
ENST00000487825.5:c.413-503A=	ENSP00000418212.1:n.413-503A=
ENST00000491747.6:c.788-503A=	ENSP00000420705.2:n.788-503A=
ENST00000493795.5:c.3855A=	ENSP00000418775.1:p.Gly1285=
ENST00000493919.5:c.647-503A=	ENSP00000418819.1:n.647-503A=
ENST00000586385.5:c.5-27584A=	ENSP00000465818.1:n.5-27584A=
ENST00000591534.5:c.-43-17014A=	ENSP00000467329.1:n.-43-17014A=
ENST00000591849.5:c.-99+33736A=	ENSP00000465347.1:n.-99+33736A=
NM_007294.3:c.3996A= , LRG_292t1:c.3996A=	NP_009225.1:p.Gly1332=
NM_007297.3:c.3855A=	NP_009228.2:p.Gly1285=
NM_007298.3:c.788-503A=	NP_009229.2:n.788-503A=
NM_007299.3:c.788-503A=	NP_009230.2:n.788-503A=
NM_007300.3:c.3996A=	NP_009231.2:p.Gly1332=
NR_027676.1:n.4132A=
NM_007294.4:c.3996A= MANE Select	NP_009225.1:p.Gly1332=
NM_007297.4:c.3855A=	NP_009228.2:p.Gly1285=
NM_007299.4:c.788-503A=	NP_009230.2:n.788-503A=
NM_007300.4:c.3996A=	NP_009231.2:p.Gly1332=
NR_027676.2:n.4173A=