Canonical Allele Identifier: CA2260763720

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051090A= , CM000679.2:g.43051090A=	GRCh38
NC_000017.10:g.41203107A= , CM000679.1:g.41203107A=	GRCh37
NC_000017.9:g.38456633A=	NCBI36
NG_005905.2:g.166894T= , LRG_292:g.166894T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5302T=	ENSP00000417241.2:p.Tyr1768=
ENST00000470026.6:c.5305T=	ENSP00000419274.2:p.Tyr1769=
ENST00000473961.6:c.5179T=	ENSP00000420201.2:p.Tyr1727=
ENST00000476777.6:c.5299T=	ENSP00000417554.2:p.Tyr1767=
ENST00000477152.6:c.5227T=	ENSP00000419988.2:p.Tyr1743=
ENST00000478531.6:c.1993T=	ENSP00000420412.2:p.Tyr665=
ENST00000489037.2:c.5227T=	ENSP00000420781.2:p.Tyr1743=
ENST00000493919.6:c.1855T=	ENSP00000418819.2:p.Tyr619=
ENST00000494123.6:c.5305T=	ENSP00000419103.2:p.Tyr1769=
ENST00000497488.2:c.4417T=	ENSP00000418986.2:p.Tyr1473=
ENST00000618469.2:c.5305T=	ENSP00000478114.2:p.Tyr1769=
ENST00000634433.2:c.5182T=	ENSP00000489431.2:p.Tyr1728=
ENST00000644379.2:c.5371T=	ENSP00000496570.2:p.Tyr1791=
ENST00000644555.2:c.1855T=	ENSP00000494614.2:p.Tyr619=
ENST00000652672.2:c.5164T=	ENSP00000498906.2:p.Tyr1722=
ENST00000484087.6:c.1867T=	ENSP00000419481.2:p.Tyr623=
ENST00000357654.9:c.5305T= MANE Select	ENSP00000350283.3:p.Tyr1769=
ENST00000471181.7:c.5368T=	ENSP00000418960.2:p.Tyr1790=
ENST00000644379.1:c.1692T=
ENST00000352993.7:c.1879T=	ENSP00000312236.5:p.Tyr627=
ENST00000357654.7:c.5305T=	ENSP00000350283.3:p.Tyr1769=
ENST00000461221.5:c.*5088T=	ENSP00000418548.1:n.*5088T=
ENST00000468300.5:c.1993T=	ENSP00000417148.1:p.Tyr665=
ENST00000471181.6:c.5368T=	ENSP00000418960.2:p.Tyr1790=
ENST00000491747.6:c.1993T=	ENSP00000420705.2:p.Tyr665=
ENST00000493795.5:c.5164T=	ENSP00000418775.1:p.Tyr1722=
ENST00000586385.5:c.235T=	ENSP00000465818.1:p.Tyr79=
ENST00000591534.5:c.778T=	ENSP00000467329.1:p.Tyr260=
ENST00000591849.5:c.-98-900T=	ENSP00000465347.1:n.-98-900T=
NM_007294.3:c.5305T= , LRG_292t1:c.5305T=	NP_009225.1:p.Tyr1769=
NM_007297.3:c.5164T=	NP_009228.2:p.Tyr1722=
NM_007298.3:c.1993T=	NP_009229.2:p.Tyr665=
NM_007299.3:c.1993T=	NP_009230.2:p.Tyr665=
NM_007300.3:c.5368T=	NP_009231.2:p.Tyr1790=
NR_027676.1:n.5441T=
NM_007294.4:c.5305T= MANE Select	NP_009225.1:p.Tyr1769=
NM_007297.4:c.5164T=	NP_009228.2:p.Tyr1722=
NM_007299.4:c.1993T=	NP_009230.2:p.Tyr665=
NM_007300.4:c.5368T=	NP_009231.2:p.Tyr1790=
NR_027676.2:n.5482T=