Canonical Allele Identifier: CA2260769538

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063914A= , CM000679.2:g.43063914A=	GRCh38
NC_000017.10:g.41215931A= , CM000679.1:g.41215931A=	GRCh37
NC_000017.9:g.38469457A=	NCBI36
NG_005905.2:g.154070T= , LRG_292:g.154070T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5109T=	ENSP00000417241.2:p.Phe1703=
ENST00000470026.6:c.5112T=	ENSP00000419274.2:p.Phe1704=
ENST00000473961.6:c.4986T=	ENSP00000420201.2:p.Phe1662=
ENST00000476777.6:c.5106T=	ENSP00000417554.2:p.Phe1702=
ENST00000477152.6:c.5034T=	ENSP00000419988.2:p.Phe1678=
ENST00000478531.6:c.1800T=	ENSP00000420412.2:p.Phe600=
ENST00000489037.2:c.5034T=	ENSP00000420781.2:p.Phe1678=
ENST00000493919.6:c.1662T=	ENSP00000418819.2:p.Phe554=
ENST00000494123.6:c.5112T=	ENSP00000419103.2:p.Phe1704=
ENST00000497488.2:c.4224T=	ENSP00000418986.2:p.Phe1408=
ENST00000618469.2:c.5112T=	ENSP00000478114.2:p.Phe1704=
ENST00000634433.2:c.4989T=	ENSP00000489431.2:p.Phe1663=
ENST00000644379.2:c.5178T=	ENSP00000496570.2:p.Phe1726=
ENST00000644555.2:c.1662T=	ENSP00000494614.2:p.Phe554=
ENST00000652672.2:c.4971T=	ENSP00000498906.2:p.Phe1657=
ENST00000484087.6:c.1674T=	ENSP00000419481.2:p.Phe558=
ENST00000357654.9:c.5112T= MANE Select	ENSP00000350283.3:p.Phe1704=
ENST00000471181.7:c.5175T=	ENSP00000418960.2:p.Phe1725=
ENST00000644379.1:c.1499T=
ENST00000352993.7:c.1686T=	ENSP00000312236.5:p.Phe562=
ENST00000357654.7:c.5112T=	ENSP00000350283.3:p.Phe1704=
ENST00000461221.5:c.*4895T=	ENSP00000418548.1:n.*4895T=
ENST00000468300.5:c.1800T=	ENSP00000417148.1:p.Phe600=
ENST00000471181.6:c.5175T=	ENSP00000418960.2:p.Phe1725=
ENST00000478531.5:c.1800T=	ENSP00000420412.1:p.Phe600=
ENST00000484087.5:c.1425T=	ENSP00000419481.1:p.Phe475=
ENST00000491747.6:c.1800T=	ENSP00000420705.2:p.Phe600=
ENST00000493795.5:c.4971T=	ENSP00000418775.1:p.Phe1657=
ENST00000493919.5:c.1662T=	ENSP00000418819.1:p.Phe554=
ENST00000586385.5:c.42T=	ENSP00000465818.1:p.Phe14=
ENST00000591534.5:c.585T=	ENSP00000467329.1:p.Phe195=
ENST00000591849.5:c.-98-13724T=	ENSP00000465347.1:n.-98-13724T=
NM_007294.3:c.5112T= , LRG_292t1:c.5112T=	NP_009225.1:p.Phe1704=
NM_007297.3:c.4971T=	NP_009228.2:p.Phe1657=
NM_007298.3:c.1800T=	NP_009229.2:p.Phe600=
NM_007299.3:c.1800T=	NP_009230.2:p.Phe600=
NM_007300.3:c.5175T=	NP_009231.2:p.Phe1725=
NR_027676.1:n.5248T=
NM_007294.4:c.5112T= MANE Select	NP_009225.1:p.Phe1704=
NM_007297.4:c.4971T=	NP_009228.2:p.Phe1657=
NM_007299.4:c.1800T=	NP_009230.2:p.Phe600=
NM_007300.4:c.5175T=	NP_009231.2:p.Phe1725=
NR_027676.2:n.5289T=