Canonical Allele Identifier: CA2260778069

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082549C= , CM000679.2:g.43082549C=	GRCh38
NC_000017.10:g.41234566C= , CM000679.1:g.41234566C=	GRCh37
NC_000017.9:g.38488092C=	NCBI36
NG_005905.2:g.135435G= , LRG_292:g.135435G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4212G=	ENSP00000417241.2:p.Leu1404=
ENST00000470026.6:c.4212G=	ENSP00000419274.2:p.Leu1404=
ENST00000473961.6:c.4086G=	ENSP00000420201.2:p.Leu1362=
ENST00000476777.6:c.4206G=	ENSP00000417554.2:p.Leu1402=
ENST00000477152.6:c.4134G=	ENSP00000419988.2:p.Leu1378=
ENST00000478531.6:c.900G=	ENSP00000420412.2:p.Leu300=
ENST00000489037.2:c.4134G=	ENSP00000420781.2:p.Leu1378=
ENST00000493919.6:c.762G=	ENSP00000418819.2:p.Leu254=
ENST00000494123.6:c.4212G=	ENSP00000419103.2:p.Leu1404=
ENST00000497488.2:c.3324G=	ENSP00000418986.2:p.Leu1108=
ENST00000618469.2:c.4212G=	ENSP00000478114.2:p.Leu1404=
ENST00000634433.2:c.4089G=	ENSP00000489431.2:p.Leu1363=
ENST00000644379.2:c.4212G=	ENSP00000496570.2:p.Leu1404=
ENST00000644555.2:c.762G=	ENSP00000494614.2:p.Leu254=
ENST00000652672.2:c.4071G=	ENSP00000498906.2:p.Leu1357=
ENST00000484087.6:c.777G=	ENSP00000419481.2:p.Leu259=
ENST00000700182.1:c.822G=	ENSP00000514849.1:p.Leu274=
ENST00000357654.9:c.4212G= MANE Select	ENSP00000350283.3:p.Leu1404=
ENST00000471181.7:c.4212G=	ENSP00000418960.2:p.Leu1404=
ENST00000644379.1:c.533G=
ENST00000352993.7:c.786G=	ENSP00000312236.5:p.Leu262=
ENST00000357654.7:c.4212G=	ENSP00000350283.3:p.Leu1404=
ENST00000461221.5:c.*3995G=	ENSP00000418548.1:n.*3995G=
ENST00000461574.1:c.506G=
ENST00000468300.5:c.903G=	ENSP00000417148.1:p.Leu301=
ENST00000471181.6:c.4212G=	ENSP00000418960.2:p.Leu1404=
ENST00000478531.5:c.900G=	ENSP00000420412.1:p.Leu300=
ENST00000484087.5:c.525G=	ENSP00000419481.1:p.Leu175=
ENST00000487825.5:c.528G=	ENSP00000418212.1:p.Leu176=
ENST00000491747.6:c.903G=	ENSP00000420705.2:p.Leu301=
ENST00000493795.5:c.4071G=	ENSP00000418775.1:p.Leu1357=
ENST00000493919.5:c.762G=	ENSP00000418819.1:p.Leu254=
ENST00000586385.5:c.5-18598G=	ENSP00000465818.1:n.5-18598G=
ENST00000591534.5:c.-43-8028G=	ENSP00000467329.1:n.-43-8028G=
ENST00000591849.5:c.-98-32359G=	ENSP00000465347.1:n.-98-32359G=
ENST00000621897.1:n.106G=
NM_007294.3:c.4212G= , LRG_292t1:c.4212G=	NP_009225.1:p.Leu1404=
NM_007297.3:c.4071G=	NP_009228.2:p.Leu1357=
NM_007298.3:c.903G=	NP_009229.2:p.Leu301=
NM_007299.3:c.903G=	NP_009230.2:p.Leu301=
NM_007300.3:c.4212G=	NP_009231.2:p.Leu1404=
NR_027676.1:n.4348G=
NM_007294.4:c.4212G= MANE Select	NP_009225.1:p.Leu1404=
NM_007297.4:c.4071G=	NP_009228.2:p.Leu1357=
NM_007299.4:c.903G=	NP_009230.2:p.Leu301=
NM_007300.4:c.4212G=	NP_009231.2:p.Leu1404=
NR_027676.2:n.4389G=