Canonical Allele Identifier: CA2260761992

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047663G= , CM000679.2:g.43047663G=	GRCh38
NC_000017.10:g.41199680G= , CM000679.1:g.41199680G=	GRCh37
NC_000017.9:g.38453206G=	NCBI36
NG_005905.2:g.170321C= , LRG_292:g.170321C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5444C=	ENSP00000417241.2:p.Thr1815=
ENST00000470026.6:c.5447C=	ENSP00000419274.2:p.Thr1816=
ENST00000473961.6:c.5321C=	ENSP00000420201.2:p.Thr1774=
ENST00000476777.6:c.5441C=	ENSP00000417554.2:p.Thr1814=
ENST00000477152.6:c.5369C=	ENSP00000419988.2:p.Thr1790=
ENST00000478531.6:c.2135C=	ENSP00000420412.2:p.Thr712=
ENST00000489037.2:c.5369C=	ENSP00000420781.2:p.Thr1790=
ENST00000493919.6:c.1997C=	ENSP00000418819.2:p.Thr666=
ENST00000494123.6:c.5447C=	ENSP00000419103.2:p.Thr1816=
ENST00000497488.2:c.4559C=	ENSP00000418986.2:p.Thr1520=
ENST00000618469.2:c.5447C=	ENSP00000478114.2:p.Thr1816=
ENST00000634433.2:c.5324C=	ENSP00000489431.2:p.Thr1775=
ENST00000644379.2:c.5513C=	ENSP00000496570.2:p.Thr1838=
ENST00000644555.2:c.1997C=	ENSP00000494614.2:p.Thr666=
ENST00000652672.2:c.5306C=	ENSP00000498906.2:p.Thr1769=
ENST00000484087.6:c.2009C=	ENSP00000419481.2:p.Thr670=
ENST00000700081.1:n.1330C=
ENST00000700082.1:n.811C=
ENST00000357654.9:c.5447C= MANE Select	ENSP00000350283.3:p.Thr1816=
ENST00000471181.7:c.5510C=	ENSP00000418960.2:p.Thr1837=
ENST00000644379.1:c.1834C=
ENST00000352993.7:c.2021C=	ENSP00000312236.5:p.Thr674=
ENST00000357654.7:c.5447C=	ENSP00000350283.3:p.Thr1816=
ENST00000461221.5:c.*5230C=	ENSP00000418548.1:n.*5230C=
ENST00000468300.5:c.2061C=	ENSP00000417148.1:p.Asp687=
ENST00000471181.6:c.5510C=	ENSP00000418960.2:p.Thr1837=
ENST00000491747.6:c.2135C=	ENSP00000420705.2:p.Thr712=
ENST00000493795.5:c.5306C=	ENSP00000418775.1:p.Thr1769=
ENST00000586385.5:c.377C=	ENSP00000465818.1:p.Thr126=
ENST00000591534.5:c.920C=	ENSP00000467329.1:p.Thr307=
ENST00000591849.5:c.146C=	ENSP00000465347.1:p.Thr49=
NM_007294.3:c.5447C= , LRG_292t1:c.5447C=	NP_009225.1:p.Thr1816=
NM_007297.3:c.5306C=	NP_009228.2:p.Thr1769=
NM_007298.3:c.2135C=	NP_009229.2:p.Thr712=
NM_007299.3:c.2061C=	NP_009230.2:p.Asp687=
NM_007300.3:c.5510C=	NP_009231.2:p.Thr1837=
NR_027676.1:n.5583C=
NM_007294.4:c.5447C= MANE Select	NP_009225.1:p.Thr1816=
NM_007297.4:c.5306C=	NP_009228.2:p.Thr1769=
NM_007299.4:c.2061C=	NP_009230.2:p.Asp687=
NM_007300.4:c.5510C=	NP_009231.2:p.Thr1837=
NR_027676.2:n.5624C=