Canonical Allele Identifier: CA500146603

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567777953
• MyVariant Identifiers: chr17:g.41226427A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074410A>T , CM000679.2:g.43074410A>T	GRCh38
NC_000017.10:g.41226427A>T , CM000679.1:g.41226427A>T	GRCh37
NC_000017.9:g.38479953A>T	NCBI36
NG_005905.2:g.143574T>A , LRG_292:g.143574T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4593T>A	ENSP00000417241.2:p.Val1531=
ENST00000470026.6:c.4596T>A	ENSP00000419274.2:p.Val1532=
ENST00000473961.6:c.4470T>A	ENSP00000420201.2:p.Val1490=
ENST00000476777.6:c.4590T>A	ENSP00000417554.2:p.Val1530=
ENST00000477152.6:c.4518T>A	ENSP00000419988.2:p.Val1506=
ENST00000478531.6:c.1284T>A	ENSP00000420412.2:p.Val428=
ENST00000489037.2:c.4518T>A	ENSP00000420781.2:p.Val1506=
ENST00000493919.6:c.1146T>A	ENSP00000418819.2:p.Val382=
ENST00000494123.6:c.4596T>A	ENSP00000419103.2:p.Val1532=
ENST00000497488.2:c.3708T>A	ENSP00000418986.2:p.Val1236=
ENST00000618469.2:c.4596T>A	ENSP00000478114.2:p.Val1532=
ENST00000634433.2:c.4473T>A	ENSP00000489431.2:p.Val1491=
ENST00000644379.2:c.4662T>A	ENSP00000496570.2:p.Val1554=
ENST00000644555.2:c.1146T>A	ENSP00000494614.2:p.Val382=
ENST00000652672.2:c.4455T>A	ENSP00000498906.2:p.Val1485=
ENST00000484087.6:c.1158T>A	ENSP00000419481.2:p.Val386=
ENST00000700182.1:c.1203T>A	ENSP00000514849.1:p.Val401=
ENST00000357654.9:c.4596T>A MANE Select	ENSP00000350283.3:p.Val1532=
ENST00000471181.7:c.4659T>A	ENSP00000418960.2:p.Val1553=
ENST00000644379.1:c.983T>A
ENST00000352993.7:c.1170T>A	ENSP00000312236.5:p.Val390=
ENST00000357654.7:c.4596T>A	ENSP00000350283.3:p.Val1532=
ENST00000461221.5:c.*4379T>A	ENSP00000418548.1:n.*4379T>A
ENST00000468300.5:c.1284T>A	ENSP00000417148.1:p.Val428=
ENST00000471181.6:c.4659T>A	ENSP00000418960.2:p.Val1553=
ENST00000478531.5:c.1284T>A	ENSP00000420412.1:p.Val428=
ENST00000484087.5:c.909T>A	ENSP00000419481.1:p.Val303=
ENST00000491747.6:c.1284T>A	ENSP00000420705.2:p.Val428=
ENST00000493795.5:c.4455T>A	ENSP00000418775.1:p.Val1485=
ENST00000493919.5:c.1146T>A	ENSP00000418819.1:p.Val382=
ENST00000586385.5:c.5-10459T>A	ENSP00000465818.1:n.5-10459T>A
ENST00000591534.5:c.69T>A	ENSP00000467329.1:p.Val23=
ENST00000591849.5:c.-98-24220T>A	ENSP00000465347.1:n.-98-24220T>A
NM_007294.3:c.4596T>A , LRG_292t1:c.4596T>A	NP_009225.1:p.Val1532=
NM_007297.3:c.4455T>A	NP_009228.2:p.Val1485=
NM_007298.3:c.1284T>A	NP_009229.2:p.Val428=
NM_007299.3:c.1284T>A	NP_009230.2:p.Val428=
NM_007300.3:c.4659T>A	NP_009231.2:p.Val1553=
NR_027676.1:n.4732T>A
NM_007294.4:c.4596T>A MANE Select	NP_009225.1:p.Val1532=
NM_007297.4:c.4455T>A	NP_009228.2:p.Val1485=
NM_007299.4:c.1284T>A	NP_009230.2:p.Val428=
NM_007300.4:c.4659T>A	NP_009231.2:p.Val1553=
NR_027676.2:n.4773T>A