Canonical Allele Identifier: CA10593209

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154155008
• MyVariant Identifiers: chr17:g.41234522T>A (hg19) ; chr17:g.43082505T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082505T>A , CM000679.2:g.43082505T>A	GRCh38
NC_000017.10:g.41234522T>A , CM000679.1:g.41234522T>A	GRCh37
NC_000017.9:g.38488048T>A	NCBI36
NG_005905.2:g.135479A>T , LRG_292:g.135479A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4256A>T	ENSP00000417241.2:p.Glu1419Val
ENST00000470026.6:c.4256A>T	ENSP00000419274.2:p.Glu1419Val
ENST00000473961.6:c.4130A>T	ENSP00000420201.2:p.Glu1377Val
ENST00000476777.6:c.4250A>T	ENSP00000417554.2:p.Glu1417Val
ENST00000477152.6:c.4178A>T	ENSP00000419988.2:p.Glu1393Val
ENST00000478531.6:c.944A>T	ENSP00000420412.2:p.Glu315Val
ENST00000489037.2:c.4178A>T	ENSP00000420781.2:p.Glu1393Val
ENST00000493919.6:c.806A>T	ENSP00000418819.2:p.Glu269Val
ENST00000494123.6:c.4256A>T	ENSP00000419103.2:p.Glu1419Val
ENST00000497488.2:c.3368A>T	ENSP00000418986.2:p.Glu1123Val
ENST00000618469.2:c.4256A>T	ENSP00000478114.2:p.Glu1419Val
ENST00000634433.2:c.4133A>T	ENSP00000489431.2:p.Glu1378Val
ENST00000644379.2:c.4256A>T	ENSP00000496570.2:p.Glu1419Val
ENST00000644555.2:c.806A>T	ENSP00000494614.2:p.Glu269Val
ENST00000652672.2:c.4115A>T	ENSP00000498906.2:p.Glu1372Val
ENST00000484087.6:c.821A>T	ENSP00000419481.2:p.Glu274Val
ENST00000700182.1:c.866A>T	ENSP00000514849.1:p.Glu289Val
ENST00000357654.9:c.4256A>T MANE Select	ENSP00000350283.3:p.Glu1419Val
ENST00000471181.7:c.4256A>T	ENSP00000418960.2:p.Glu1419Val
ENST00000644379.1:c.577A>T
ENST00000352993.7:c.830A>T	ENSP00000312236.5:p.Glu277Val
ENST00000357654.7:c.4256A>T	ENSP00000350283.3:p.Glu1419Val
ENST00000461221.5:c.*4039A>T	ENSP00000418548.1:n.*4039A>T
ENST00000461574.1:c.550A>T
ENST00000468300.5:c.947A>T	ENSP00000417148.1:p.Glu316Val
ENST00000471181.6:c.4256A>T	ENSP00000418960.2:p.Glu1419Val
ENST00000478531.5:c.944A>T	ENSP00000420412.1:p.Glu315Val
ENST00000484087.5:c.569A>T	ENSP00000419481.1:p.Glu190Val
ENST00000487825.5:c.572A>T	ENSP00000418212.1:p.Glu191Val
ENST00000491747.6:c.947A>T	ENSP00000420705.2:p.Glu316Val
ENST00000493795.5:c.4115A>T	ENSP00000418775.1:p.Glu1372Val
ENST00000493919.5:c.806A>T	ENSP00000418819.1:p.Glu269Val
ENST00000586385.5:c.5-18554A>T	ENSP00000465818.1:n.5-18554A>T
ENST00000591534.5:c.-43-7984A>T	ENSP00000467329.1:n.-43-7984A>T
ENST00000591849.5:c.-98-32315A>T	ENSP00000465347.1:n.-98-32315A>T
ENST00000621897.1:n.150A>T
NM_007294.3:c.4256A>T , LRG_292t1:c.4256A>T	NP_009225.1:p.Glu1419Val
NM_007297.3:c.4115A>T	NP_009228.2:p.Glu1372Val
NM_007298.3:c.947A>T	NP_009229.2:p.Glu316Val
NM_007299.3:c.947A>T	NP_009230.2:p.Glu316Val
NM_007300.3:c.4256A>T	NP_009231.2:p.Glu1419Val
NR_027676.1:n.4392A>T
NM_007294.4:c.4256A>T MANE Select	NP_009225.1:p.Glu1419Val
NM_007297.4:c.4115A>T	NP_009228.2:p.Glu1372Val
NM_007299.4:c.947A>T	NP_009230.2:p.Glu316Val
NM_007300.4:c.4256A>T	NP_009231.2:p.Glu1419Val
NR_027676.2:n.4433A>T