Canonical Allele Identifier: CA2260775474

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076527T= , CM000679.2:g.43076527T=	GRCh38
NC_000017.10:g.41228544T= , CM000679.1:g.41228544T=	GRCh37
NC_000017.9:g.38482070T=	NCBI36
NG_005905.2:g.141457A= , LRG_292:g.141457A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4442A=	ENSP00000417241.2:p.Asp1481=
ENST00000470026.6:c.4445A=	ENSP00000419274.2:p.Asp1482=
ENST00000473961.6:c.4319A=	ENSP00000420201.2:p.Asp1440=
ENST00000476777.6:c.4439A=	ENSP00000417554.2:p.Asp1480=
ENST00000477152.6:c.4367A=	ENSP00000419988.2:p.Asp1456=
ENST00000478531.6:c.1133A=	ENSP00000420412.2:p.Asp378=
ENST00000489037.2:c.4367A=	ENSP00000420781.2:p.Asp1456=
ENST00000493919.6:c.995A=	ENSP00000418819.2:p.Asp332=
ENST00000494123.6:c.4445A=	ENSP00000419103.2:p.Asp1482=
ENST00000497488.2:c.3557A=	ENSP00000418986.2:p.Asp1186=
ENST00000618469.2:c.4445A=	ENSP00000478114.2:p.Asp1482=
ENST00000634433.2:c.4322A=	ENSP00000489431.2:p.Asp1441=
ENST00000644379.2:c.4511A=	ENSP00000496570.2:p.Asp1504=
ENST00000644555.2:c.995A=	ENSP00000494614.2:p.Asp332=
ENST00000652672.2:c.4304A=	ENSP00000498906.2:p.Asp1435=
ENST00000484087.6:c.1007A=	ENSP00000419481.2:p.Asp336=
ENST00000700182.1:c.1052A=	ENSP00000514849.1:p.Asp351=
ENST00000357654.9:c.4445A= MANE Select	ENSP00000350283.3:p.Asp1482=
ENST00000471181.7:c.4508A=	ENSP00000418960.2:p.Asp1503=
ENST00000644379.1:c.832A=
ENST00000352993.7:c.1019A=	ENSP00000312236.5:p.Asp340=
ENST00000357654.7:c.4445A=	ENSP00000350283.3:p.Asp1482=
ENST00000461221.5:c.*4228A=	ENSP00000418548.1:n.*4228A=
ENST00000468300.5:c.1133A=	ENSP00000417148.1:p.Asp378=
ENST00000471181.6:c.4508A=	ENSP00000418960.2:p.Asp1503=
ENST00000478531.5:c.1133A=	ENSP00000420412.1:p.Asp378=
ENST00000484087.5:c.758A=	ENSP00000419481.1:p.Asp253=
ENST00000487825.5:c.761A=	ENSP00000418212.1:p.Asp254=
ENST00000491747.6:c.1133A=	ENSP00000420705.2:p.Asp378=
ENST00000493795.5:c.4304A=	ENSP00000418775.1:p.Asp1435=
ENST00000493919.5:c.995A=	ENSP00000418819.1:p.Asp332=
ENST00000586385.5:c.5-12576A=	ENSP00000465818.1:n.5-12576A=
ENST00000591534.5:c.-43-2006A=	ENSP00000467329.1:n.-43-2006A=
ENST00000591849.5:c.-98-26337A=	ENSP00000465347.1:n.-98-26337A=
ENST00000621897.1:n.336A=
NM_007294.3:c.4445A= , LRG_292t1:c.4445A=	NP_009225.1:p.Asp1482=
NM_007297.3:c.4304A=	NP_009228.2:p.Asp1435=
NM_007298.3:c.1133A=	NP_009229.2:p.Asp378=
NM_007299.3:c.1133A=	NP_009230.2:p.Asp378=
NM_007300.3:c.4508A=	NP_009231.2:p.Asp1503=
NR_027676.1:n.4581A=
NM_007294.4:c.4445A= MANE Select	NP_009225.1:p.Asp1482=
NM_007297.4:c.4304A=	NP_009228.2:p.Asp1435=
NM_007299.4:c.1133A=	NP_009230.2:p.Asp378=
NM_007300.4:c.4508A=	NP_009231.2:p.Asp1503=
NR_027676.2:n.4622A=