Canonical Allele Identifier: CA2260772875

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071060A= , CM000679.2:g.43071060A=	GRCh38
NC_000017.10:g.41223077A= , CM000679.1:g.41223077A=	GRCh37
NC_000017.9:g.38476603A=	NCBI36
NG_005905.2:g.146924T= , LRG_292:g.146924T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4851T=	ENSP00000417241.2:p.His1617=
ENST00000470026.6:c.4854T=	ENSP00000419274.2:p.His1618=
ENST00000473961.6:c.4728T=	ENSP00000420201.2:p.His1576=
ENST00000476777.6:c.4848T=	ENSP00000417554.2:p.His1616=
ENST00000477152.6:c.4776T=	ENSP00000419988.2:p.His1592=
ENST00000478531.6:c.1542T=	ENSP00000420412.2:p.His514=
ENST00000489037.2:c.4776T=	ENSP00000420781.2:p.His1592=
ENST00000493919.6:c.1404T=	ENSP00000418819.2:p.His468=
ENST00000494123.6:c.4854T=	ENSP00000419103.2:p.His1618=
ENST00000497488.2:c.3966T=	ENSP00000418986.2:p.His1322=
ENST00000618469.2:c.4854T=	ENSP00000478114.2:p.His1618=
ENST00000634433.2:c.4731T=	ENSP00000489431.2:p.His1577=
ENST00000644379.2:c.4920T=	ENSP00000496570.2:p.His1640=
ENST00000644555.2:c.1404T=	ENSP00000494614.2:p.His468=
ENST00000652672.2:c.4713T=	ENSP00000498906.2:p.His1571=
ENST00000484087.6:c.1416T=	ENSP00000419481.2:p.His472=
ENST00000700182.1:c.1461T=	ENSP00000514849.1:p.His487=
ENST00000357654.9:c.4854T= MANE Select	ENSP00000350283.3:p.His1618=
ENST00000471181.7:c.4917T=	ENSP00000418960.2:p.His1639=
ENST00000644379.1:c.1241T=
ENST00000352993.7:c.1428T=	ENSP00000312236.5:p.His476=
ENST00000357654.7:c.4854T=	ENSP00000350283.3:p.His1618=
ENST00000461221.5:c.*4637T=	ENSP00000418548.1:n.*4637T=
ENST00000468300.5:c.1542T=	ENSP00000417148.1:p.His514=
ENST00000471181.6:c.4917T=	ENSP00000418960.2:p.His1639=
ENST00000472490.1:n.7T=
ENST00000478531.5:c.1542T=	ENSP00000420412.1:p.His514=
ENST00000484087.5:c.1167T=	ENSP00000419481.1:p.His389=
ENST00000491747.6:c.1542T=	ENSP00000420705.2:p.His514=
ENST00000493795.5:c.4713T=	ENSP00000418775.1:p.His1571=
ENST00000493919.5:c.1404T=	ENSP00000418819.1:p.His468=
ENST00000586385.5:c.5-7109T=	ENSP00000465818.1:n.5-7109T=
ENST00000591534.5:c.327T=	ENSP00000467329.1:p.His109=
ENST00000591849.5:c.-98-20870T=	ENSP00000465347.1:n.-98-20870T=
NM_007294.3:c.4854T= , LRG_292t1:c.4854T=	NP_009225.1:p.His1618=
NM_007297.3:c.4713T=	NP_009228.2:p.His1571=
NM_007298.3:c.1542T=	NP_009229.2:p.His514=
NM_007299.3:c.1542T=	NP_009230.2:p.His514=
NM_007300.3:c.4917T=	NP_009231.2:p.His1639=
NR_027676.1:n.4990T=
NM_007294.4:c.4854T= MANE Select	NP_009225.1:p.His1618=
NM_007297.4:c.4713T=	NP_009228.2:p.His1571=
NM_007299.4:c.1542T=	NP_009230.2:p.His514=
NM_007300.4:c.4917T=	NP_009231.2:p.His1639=
NR_027676.2:n.5031T=