Canonical Allele Identifier: CA2260772871

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071052T= , CM000679.2:g.43071052T=	GRCh38
NC_000017.10:g.41223069T= , CM000679.1:g.41223069T=	GRCh37
NC_000017.9:g.38476595T=	NCBI36
NG_005905.2:g.146932A= , LRG_292:g.146932A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4859A=	ENSP00000417241.2:p.Asp1620=
ENST00000470026.6:c.4862A=	ENSP00000419274.2:p.Asp1621=
ENST00000473961.6:c.4736A=	ENSP00000420201.2:p.Asp1579=
ENST00000476777.6:c.4856A=	ENSP00000417554.2:p.Asp1619=
ENST00000477152.6:c.4784A=	ENSP00000419988.2:p.Asp1595=
ENST00000478531.6:c.1550A=	ENSP00000420412.2:p.Asp517=
ENST00000489037.2:c.4784A=	ENSP00000420781.2:p.Asp1595=
ENST00000493919.6:c.1412A=	ENSP00000418819.2:p.Asp471=
ENST00000494123.6:c.4862A=	ENSP00000419103.2:p.Asp1621=
ENST00000497488.2:c.3974A=	ENSP00000418986.2:p.Asp1325=
ENST00000618469.2:c.4862A=	ENSP00000478114.2:p.Asp1621=
ENST00000634433.2:c.4739A=	ENSP00000489431.2:p.Asp1580=
ENST00000644379.2:c.4928A=	ENSP00000496570.2:p.Asp1643=
ENST00000644555.2:c.1412A=	ENSP00000494614.2:p.Asp471=
ENST00000652672.2:c.4721A=	ENSP00000498906.2:p.Asp1574=
ENST00000484087.6:c.1424A=	ENSP00000419481.2:p.Asp475=
ENST00000700182.1:c.1469A=	ENSP00000514849.1:p.Asp490=
ENST00000357654.9:c.4862A= MANE Select	ENSP00000350283.3:p.Asp1621=
ENST00000471181.7:c.4925A=	ENSP00000418960.2:p.Asp1642=
ENST00000644379.1:c.1249A=
ENST00000352993.7:c.1436A=	ENSP00000312236.5:p.Asp479=
ENST00000357654.7:c.4862A=	ENSP00000350283.3:p.Asp1621=
ENST00000461221.5:c.*4645A=	ENSP00000418548.1:n.*4645A=
ENST00000468300.5:c.1550A=	ENSP00000417148.1:p.Asp517=
ENST00000471181.6:c.4925A=	ENSP00000418960.2:p.Asp1642=
ENST00000472490.1:n.15A=
ENST00000478531.5:c.1550A=	ENSP00000420412.1:p.Asp517=
ENST00000484087.5:c.1175A=	ENSP00000419481.1:p.Asp392=
ENST00000491747.6:c.1550A=	ENSP00000420705.2:p.Asp517=
ENST00000493795.5:c.4721A=	ENSP00000418775.1:p.Asp1574=
ENST00000493919.5:c.1412A=	ENSP00000418819.1:p.Asp471=
ENST00000586385.5:c.5-7101A=	ENSP00000465818.1:n.5-7101A=
ENST00000591534.5:c.335A=	ENSP00000467329.1:p.Asp112=
ENST00000591849.5:c.-98-20862A=	ENSP00000465347.1:n.-98-20862A=
NM_007294.3:c.4862A= , LRG_292t1:c.4862A=	NP_009225.1:p.Asp1621=
NM_007297.3:c.4721A=	NP_009228.2:p.Asp1574=
NM_007298.3:c.1550A=	NP_009229.2:p.Asp517=
NM_007299.3:c.1550A=	NP_009230.2:p.Asp517=
NM_007300.3:c.4925A=	NP_009231.2:p.Asp1642=
NR_027676.1:n.4998A=
NM_007294.4:c.4862A= MANE Select	NP_009225.1:p.Asp1621=
NM_007297.4:c.4721A=	NP_009228.2:p.Asp1574=
NM_007299.4:c.1550A=	NP_009230.2:p.Asp517=
NM_007300.4:c.4925A=	NP_009231.2:p.Asp1642=
NR_027676.2:n.5039A=