Canonical Allele Identifier: CA500146780

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41228513T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076496T>A , CM000679.2:g.43076496T>A	GRCh38
NC_000017.10:g.41228513T>A , CM000679.1:g.41228513T>A	GRCh37
NC_000017.9:g.38482039T>A	NCBI36
NG_005905.2:g.141488A>T , LRG_292:g.141488A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4473A>T	ENSP00000417241.2:p.Gly1491=
ENST00000470026.6:c.4476A>T	ENSP00000419274.2:p.Gly1492=
ENST00000473961.6:c.4350A>T	ENSP00000420201.2:p.Gly1450=
ENST00000476777.6:c.4470A>T	ENSP00000417554.2:p.Gly1490=
ENST00000477152.6:c.4398A>T	ENSP00000419988.2:p.Gly1466=
ENST00000478531.6:c.1164A>T	ENSP00000420412.2:p.Gly388=
ENST00000489037.2:c.4398A>T	ENSP00000420781.2:p.Gly1466=
ENST00000493919.6:c.1026A>T	ENSP00000418819.2:p.Gly342=
ENST00000494123.6:c.4476A>T	ENSP00000419103.2:p.Gly1492=
ENST00000497488.2:c.3588A>T	ENSP00000418986.2:p.Gly1196=
ENST00000618469.2:c.4476A>T	ENSP00000478114.2:p.Gly1492=
ENST00000634433.2:c.4353A>T	ENSP00000489431.2:p.Gly1451=
ENST00000644379.2:c.4542A>T	ENSP00000496570.2:p.Gly1514=
ENST00000644555.2:c.1026A>T	ENSP00000494614.2:p.Gly342=
ENST00000652672.2:c.4335A>T	ENSP00000498906.2:p.Gly1445=
ENST00000484087.6:c.1038A>T	ENSP00000419481.2:p.Gly346=
ENST00000700182.1:c.1083A>T	ENSP00000514849.1:p.Gly361=
ENST00000357654.9:c.4476A>T MANE Select	ENSP00000350283.3:p.Gly1492=
ENST00000471181.7:c.4539A>T	ENSP00000418960.2:p.Gly1513=
ENST00000644379.1:c.863A>T
ENST00000352993.7:c.1050A>T	ENSP00000312236.5:p.Gly350=
ENST00000357654.7:c.4476A>T	ENSP00000350283.3:p.Gly1492=
ENST00000461221.5:c.*4259A>T	ENSP00000418548.1:n.*4259A>T
ENST00000468300.5:c.1164A>T	ENSP00000417148.1:p.Gly388=
ENST00000471181.6:c.4539A>T	ENSP00000418960.2:p.Gly1513=
ENST00000478531.5:c.1164A>T	ENSP00000420412.1:p.Gly388=
ENST00000484087.5:c.789A>T	ENSP00000419481.1:p.Gly263=
ENST00000487825.5:c.792A>T	ENSP00000418212.1:p.Gly264=
ENST00000491747.6:c.1164A>T	ENSP00000420705.2:p.Gly388=
ENST00000493795.5:c.4335A>T	ENSP00000418775.1:p.Gly1445=
ENST00000493919.5:c.1026A>T	ENSP00000418819.1:p.Gly342=
ENST00000586385.5:c.5-12545A>T	ENSP00000465818.1:n.5-12545A>T
ENST00000591534.5:c.-43-1975A>T	ENSP00000467329.1:n.-43-1975A>T
ENST00000591849.5:c.-98-26306A>T	ENSP00000465347.1:n.-98-26306A>T
ENST00000621897.1:n.367A>T
NM_007294.3:c.4476A>T , LRG_292t1:c.4476A>T	NP_009225.1:p.Gly1492=
NM_007297.3:c.4335A>T	NP_009228.2:p.Gly1445=
NM_007298.3:c.1164A>T	NP_009229.2:p.Gly388=
NM_007299.3:c.1164A>T	NP_009230.2:p.Gly388=
NM_007300.3:c.4539A>T	NP_009231.2:p.Gly1513=
NR_027676.1:n.4612A>T
NM_007294.4:c.4476A>T MANE Select	NP_009225.1:p.Gly1492=
NM_007297.4:c.4335A>T	NP_009228.2:p.Gly1445=
NM_007299.4:c.1164A>T	NP_009230.2:p.Gly388=
NM_007300.4:c.4539A>T	NP_009231.2:p.Gly1513=
NR_027676.2:n.4653A>T