Canonical Allele Identifier: CA2260772913

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071098T= , CM000679.2:g.43071098T=	GRCh38
NC_000017.10:g.41223115T= , CM000679.1:g.41223115T=	GRCh37
NC_000017.9:g.38476641T=	NCBI36
NG_005905.2:g.146886A= , LRG_292:g.146886A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4813A=	ENSP00000417241.2:p.Lys1605=
ENST00000470026.6:c.4816A=	ENSP00000419274.2:p.Lys1606=
ENST00000473961.6:c.4690A=	ENSP00000420201.2:p.Lys1564=
ENST00000476777.6:c.4810A=	ENSP00000417554.2:p.Lys1604=
ENST00000477152.6:c.4738A=	ENSP00000419988.2:p.Lys1580=
ENST00000478531.6:c.1504A=	ENSP00000420412.2:p.Lys502=
ENST00000489037.2:c.4738A=	ENSP00000420781.2:p.Lys1580=
ENST00000493919.6:c.1366A=	ENSP00000418819.2:p.Lys456=
ENST00000494123.6:c.4816A=	ENSP00000419103.2:p.Lys1606=
ENST00000497488.2:c.3928A=	ENSP00000418986.2:p.Lys1310=
ENST00000618469.2:c.4816A=	ENSP00000478114.2:p.Lys1606=
ENST00000634433.2:c.4693A=	ENSP00000489431.2:p.Lys1565=
ENST00000644379.2:c.4882A=	ENSP00000496570.2:p.Lys1628=
ENST00000644555.2:c.1366A=	ENSP00000494614.2:p.Lys456=
ENST00000652672.2:c.4675A=	ENSP00000498906.2:p.Lys1559=
ENST00000484087.6:c.1378A=	ENSP00000419481.2:p.Lys460=
ENST00000700182.1:c.1423A=	ENSP00000514849.1:p.Lys475=
ENST00000357654.9:c.4816A= MANE Select	ENSP00000350283.3:p.Lys1606=
ENST00000471181.7:c.4879A=	ENSP00000418960.2:p.Lys1627=
ENST00000644379.1:c.1203A=
ENST00000352993.7:c.1390A=	ENSP00000312236.5:p.Lys464=
ENST00000357654.7:c.4816A=	ENSP00000350283.3:p.Lys1606=
ENST00000461221.5:c.*4599A=	ENSP00000418548.1:n.*4599A=
ENST00000468300.5:c.1504A=	ENSP00000417148.1:p.Lys502=
ENST00000471181.6:c.4879A=	ENSP00000418960.2:p.Lys1627=
ENST00000478531.5:c.1504A=	ENSP00000420412.1:p.Lys502=
ENST00000484087.5:c.1129A=	ENSP00000419481.1:p.Lys377=
ENST00000491747.6:c.1504A=	ENSP00000420705.2:p.Lys502=
ENST00000493795.5:c.4675A=	ENSP00000418775.1:p.Lys1559=
ENST00000493919.5:c.1366A=	ENSP00000418819.1:p.Lys456=
ENST00000586385.5:c.5-7147A=	ENSP00000465818.1:n.5-7147A=
ENST00000591534.5:c.289A=	ENSP00000467329.1:p.Lys97=
ENST00000591849.5:c.-98-20908A=	ENSP00000465347.1:n.-98-20908A=
NM_007294.3:c.4816A= , LRG_292t1:c.4816A=	NP_009225.1:p.Lys1606=
NM_007297.3:c.4675A=	NP_009228.2:p.Lys1559=
NM_007298.3:c.1504A=	NP_009229.2:p.Lys502=
NM_007299.3:c.1504A=	NP_009230.2:p.Lys502=
NM_007300.3:c.4879A=	NP_009231.2:p.Lys1627=
NR_027676.1:n.4952A=
NM_007294.4:c.4816A= MANE Select	NP_009225.1:p.Lys1606=
NM_007297.4:c.4675A=	NP_009228.2:p.Lys1559=
NM_007299.4:c.1504A=	NP_009230.2:p.Lys502=
NM_007300.4:c.4879A=	NP_009231.2:p.Lys1627=
NR_027676.2:n.4993A=