Canonical Allele Identifier: CA2260763731

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051098A= , CM000679.2:g.43051098A=	GRCh38
NC_000017.10:g.41203115A= , CM000679.1:g.41203115A=	GRCh37
NC_000017.9:g.38456641A=	NCBI36
NG_005905.2:g.166886T= , LRG_292:g.166886T=

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5297T= MANE Select	NP_009225.1:p.Ile1766=
ENST00000357654.9:c.5297T= MANE Select	ENSP00000350283.3:p.Ile1766=
NM_007294.3:c.5297T= , LRG_292t1:c.5297T=	NP_009225.1:p.Ile1766=
NM_007297.3:c.5156T=	NP_009228.2:p.Ile1719=
NM_007297.4:c.5156T=	NP_009228.2:p.Ile1719=
NM_007298.3:c.1985T=	NP_009229.2:p.Ile662=
NM_007299.3:c.1985T=	NP_009230.2:p.Ile662=
NM_007299.4:c.1985T=	NP_009230.2:p.Ile662=
NM_007300.3:c.5360T=	NP_009231.2:p.Ile1787=
NM_007300.4:c.5360T=	NP_009231.2:p.Ile1787=
NR_027676.1:n.5433T=
NR_027676.2:n.5474T=
ENST00000352993.7:c.1871T=	ENSP00000312236.5:p.Ile624=
ENST00000357654.7:c.5297T=	ENSP00000350283.3:p.Ile1766=
ENST00000461221.5:c.*5080T=	ENSP00000418548.1:n.*5080T=
ENST00000461574.2:c.5294T=	ENSP00000417241.2:p.Ile1765=
ENST00000468300.5:c.1985T=	ENSP00000417148.1:p.Ile662=
ENST00000470026.6:c.5297T=	ENSP00000419274.2:p.Ile1766=
ENST00000471181.6:c.5360T=	ENSP00000418960.2:p.Ile1787=
ENST00000471181.7:c.5360T=	ENSP00000418960.2:p.Ile1787=
ENST00000473961.6:c.5171T=	ENSP00000420201.2:p.Ile1724=
ENST00000476777.6:c.5291T=	ENSP00000417554.2:p.Ile1764=
ENST00000477152.6:c.5219T=	ENSP00000419988.2:p.Ile1740=
ENST00000478531.6:c.1985T=	ENSP00000420412.2:p.Ile662=
ENST00000484087.6:c.1859T=	ENSP00000419481.2:p.Ile620=
ENST00000489037.2:c.5219T=	ENSP00000420781.2:p.Ile1740=
ENST00000491747.6:c.1985T=	ENSP00000420705.2:p.Ile662=
ENST00000493795.5:c.5156T=	ENSP00000418775.1:p.Ile1719=
ENST00000493919.6:c.1847T=	ENSP00000418819.2:p.Ile616=
ENST00000494123.6:c.5297T=	ENSP00000419103.2:p.Ile1766=
ENST00000497488.2:c.4409T=	ENSP00000418986.2:p.Ile1470=
ENST00000586385.5:c.227T=	ENSP00000465818.1:p.Ile76=
ENST00000591534.5:c.770T=	ENSP00000467329.1:p.Ile257=
ENST00000591849.5:c.-98-908T=	ENSP00000465347.1:n.-98-908T=
ENST00000618469.2:c.5297T=	ENSP00000478114.2:p.Ile1766=
ENST00000634433.2:c.5174T=	ENSP00000489431.2:p.Ile1725=
ENST00000644379.1:c.1684T=
ENST00000644379.2:c.5363T=	ENSP00000496570.2:p.Ile1788=
ENST00000644555.2:c.1847T=	ENSP00000494614.2:p.Ile616=
ENST00000652672.2:c.5156T=	ENSP00000498906.2:p.Ile1719=