Canonical Allele Identifier: CA2260775548

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076600G= , CM000679.2:g.43076600G=	GRCh38
NC_000017.10:g.41228617G= , CM000679.1:g.41228617G=	GRCh37
NC_000017.9:g.38482143G=	NCBI36
NG_005905.2:g.141384C= , LRG_292:g.141384C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4369C=	ENSP00000417241.2:p.Gln1457=
ENST00000470026.6:c.4372C=	ENSP00000419274.2:p.Gln1458=
ENST00000473961.6:c.4246C=	ENSP00000420201.2:p.Gln1416=
ENST00000476777.6:c.4366C=	ENSP00000417554.2:p.Gln1456=
ENST00000477152.6:c.4294C=	ENSP00000419988.2:p.Gln1432=
ENST00000478531.6:c.1060C=	ENSP00000420412.2:p.Gln354=
ENST00000489037.2:c.4294C=	ENSP00000420781.2:p.Gln1432=
ENST00000493919.6:c.922C=	ENSP00000418819.2:p.Gln308=
ENST00000494123.6:c.4372C=	ENSP00000419103.2:p.Gln1458=
ENST00000497488.2:c.3484C=	ENSP00000418986.2:p.Gln1162=
ENST00000618469.2:c.4372C=	ENSP00000478114.2:p.Gln1458=
ENST00000634433.2:c.4249C=	ENSP00000489431.2:p.Gln1417=
ENST00000644379.2:c.4438C=	ENSP00000496570.2:p.Gln1480=
ENST00000644555.2:c.922C=	ENSP00000494614.2:p.Gln308=
ENST00000652672.2:c.4231C=	ENSP00000498906.2:p.Gln1411=
ENST00000484087.6:c.934C=	ENSP00000419481.2:p.Gln312=
ENST00000700182.1:c.979C=	ENSP00000514849.1:p.Gln327=
ENST00000357654.9:c.4372C= MANE Select	ENSP00000350283.3:p.Gln1458=
ENST00000471181.7:c.4435C=	ENSP00000418960.2:p.Gln1479=
ENST00000644379.1:c.759C=
ENST00000352993.7:c.946C=	ENSP00000312236.5:p.Gln316=
ENST00000357654.7:c.4372C=	ENSP00000350283.3:p.Gln1458=
ENST00000461221.5:c.*4155C=	ENSP00000418548.1:n.*4155C=
ENST00000461574.1:c.663C=
ENST00000468300.5:c.1060C=	ENSP00000417148.1:p.Gln354=
ENST00000471181.6:c.4435C=	ENSP00000418960.2:p.Gln1479=
ENST00000478531.5:c.1060C=	ENSP00000420412.1:p.Gln354=
ENST00000484087.5:c.685C=	ENSP00000419481.1:p.Gln229=
ENST00000487825.5:c.688C=	ENSP00000418212.1:p.Gln230=
ENST00000491747.6:c.1060C=	ENSP00000420705.2:p.Gln354=
ENST00000493795.5:c.4231C=	ENSP00000418775.1:p.Gln1411=
ENST00000493919.5:c.922C=	ENSP00000418819.1:p.Gln308=
ENST00000586385.5:c.5-12649C=	ENSP00000465818.1:n.5-12649C=
ENST00000591534.5:c.-43-2079C=	ENSP00000467329.1:n.-43-2079C=
ENST00000591849.5:c.-98-26410C=	ENSP00000465347.1:n.-98-26410C=
ENST00000621897.1:n.263C=
NM_007294.3:c.4372C= , LRG_292t1:c.4372C=	NP_009225.1:p.Gln1458=
NM_007297.3:c.4231C=	NP_009228.2:p.Gln1411=
NM_007298.3:c.1060C=	NP_009229.2:p.Gln354=
NM_007299.3:c.1060C=	NP_009230.2:p.Gln354=
NM_007300.3:c.4435C=	NP_009231.2:p.Gln1479=
NR_027676.1:n.4508C=
NM_007294.4:c.4372C= MANE Select	NP_009225.1:p.Gln1458=
NM_007297.4:c.4231C=	NP_009228.2:p.Gln1411=
NM_007299.4:c.1060C=	NP_009230.2:p.Gln354=
NM_007300.4:c.4435C=	NP_009231.2:p.Gln1479=
NR_027676.2:n.4549C=