Canonical Allele Identifier: CA2260761126

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045773C= , CM000679.2:g.43045773C=	GRCh38
NC_000017.10:g.41197790C= , CM000679.1:g.41197790C=	GRCh37
NC_000017.9:g.38451316C=	NCBI36
NG_005905.2:g.172211G= , LRG_292:g.172211G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5494G=	ENSP00000417241.2:p.Val1832=
ENST00000470026.6:c.5497G=	ENSP00000419274.2:p.Val1833=
ENST00000473961.6:c.5371G=	ENSP00000420201.2:p.Val1791=
ENST00000476777.6:c.5491G=	ENSP00000417554.2:p.Val1831=
ENST00000477152.6:c.5419G=	ENSP00000419988.2:p.Val1807=
ENST00000478531.6:c.2185G=	ENSP00000420412.2:p.Val729=
ENST00000489037.2:c.5419G=	ENSP00000420781.2:p.Val1807=
ENST00000493919.6:c.2047G=	ENSP00000418819.2:p.Val683=
ENST00000494123.6:c.5497G=	ENSP00000419103.2:p.Val1833=
ENST00000497488.2:c.4609G=	ENSP00000418986.2:p.Val1537=
ENST00000618469.2:c.5497G=	ENSP00000478114.2:p.Val1833=
ENST00000634433.2:c.5374G=	ENSP00000489431.2:p.Val1792=
ENST00000644379.2:c.5563G=	ENSP00000496570.2:p.Val1855=
ENST00000644555.2:c.2047G=	ENSP00000494614.2:p.Val683=
ENST00000652672.2:c.5356G=	ENSP00000498906.2:p.Val1786=
ENST00000484087.6:c.2059G=	ENSP00000419481.2:p.Val687=
ENST00000700081.1:n.1380G=
ENST00000700082.1:n.861G=
ENST00000357654.9:c.5497G= MANE Select	ENSP00000350283.3:p.Val1833=
ENST00000471181.7:c.5560G=	ENSP00000418960.2:p.Val1854=
ENST00000644379.1:c.1884G=
ENST00000352993.7:c.2071G=	ENSP00000312236.5:p.Val691=
ENST00000357654.7:c.5497G=	ENSP00000350283.3:p.Val1833=
ENST00000461221.5:c.*5280G=	ENSP00000418548.1:n.*5280G=
ENST00000468300.5:c.*11G=	ENSP00000417148.1:n.*11G=
ENST00000471181.6:c.5560G=	ENSP00000418960.2:p.Val1854=
ENST00000491747.6:c.2185G=	ENSP00000420705.2:p.Val729=
ENST00000493795.5:c.5356G=	ENSP00000418775.1:p.Val1786=
ENST00000586385.5:c.427G=	ENSP00000465818.1:p.Val143=
ENST00000591534.5:c.970G=	ENSP00000467329.1:p.Val324=
ENST00000591849.5:c.196G=	ENSP00000465347.1:p.Val66=
NM_007294.3:c.5497G= , LRG_292t1:c.5497G=	NP_009225.1:p.Val1833=
NM_007297.3:c.5356G=	NP_009228.2:p.Val1786=
NM_007298.3:c.2185G=	NP_009229.2:p.Val729=
NM_007299.3:c.*11G=	NP_009230.2:n.*11G=
NM_007300.3:c.5560G=	NP_009231.2:p.Val1854=
NR_027676.1:n.5633G=
NM_007294.4:c.5497G= MANE Select	NP_009225.1:p.Val1833=
NM_007297.4:c.5356G=	NP_009228.2:p.Val1786=
NM_007299.4:c.*11G=	NP_009230.2:n.*11G=
NM_007300.4:c.5560G=	NP_009231.2:p.Val1854=
NR_027676.2:n.5674G=