Canonical Allele Identifier: CA10590777
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 868356
ClinVar RCV Id: RCV001077243
dbSNP Id: rs1555575182

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43049184T>A , CM000679.2:g.43049184T>A GRCh38
NC_000017.10:g.41201201T>A , CM000679.1:g.41201201T>A GRCh37
NC_000017.9:g.38454727T>A NCBI36
NG_005905.2:g.168800A>T , LRG_292:g.168800A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5340A>T ENSP00000417241.2:p.Glu1780Asp
ENST00000470026.6:c.5343A>T ENSP00000419274.2:p.Glu1781Asp
ENST00000473961.6:c.5217A>T ENSP00000420201.2:p.Glu1739Asp
ENST00000476777.6:c.5337A>T ENSP00000417554.2:p.Glu1779Asp
ENST00000477152.6:c.5265A>T ENSP00000419988.2:p.Glu1755Asp
ENST00000478531.6:c.2031A>T ENSP00000420412.2:p.Glu677Asp
ENST00000489037.2:c.5265A>T ENSP00000420781.2:p.Glu1755Asp
ENST00000493919.6:c.1893A>T ENSP00000418819.2:p.Glu631Asp
ENST00000494123.6:c.5343A>T ENSP00000419103.2:p.Glu1781Asp
ENST00000497488.2:c.4455A>T ENSP00000418986.2:p.Glu1485Asp
ENST00000618469.2:c.5343A>T ENSP00000478114.2:p.Glu1781Asp
ENST00000634433.2:c.5220A>T ENSP00000489431.2:p.Glu1740Asp
ENST00000644379.2:c.5409A>T ENSP00000496570.2:p.Glu1803Asp
ENST00000644555.2:c.1893A>T ENSP00000494614.2:p.Glu631Asp
ENST00000652672.2:c.5202A>T ENSP00000498906.2:p.Glu1734Asp
ENST00000484087.6:c.1905A>T ENSP00000419481.2:p.Glu635Asp
ENST00000700081.1:n.1226A>T
ENST00000357654.9:c.5343A>T MANE Select ENSP00000350283.3:p.Glu1781Asp
ENST00000471181.7:c.5406A>T ENSP00000418960.2:p.Glu1802Asp
ENST00000644379.1:c.1730A>T
ENST00000352993.7:c.1917A>T ENSP00000312236.5:p.Glu639Asp
ENST00000357654.7:c.5343A>T ENSP00000350283.3:p.Glu1781Asp
ENST00000461221.5:c.*5126A>T ENSP00000418548.1:n.*5126A>T
ENST00000468300.5:c.2021-1481A>T ENSP00000417148.1:n.2021-1481A>T
ENST00000471181.6:c.5406A>T ENSP00000418960.2:p.Glu1802Asp
ENST00000491747.6:c.2031A>T ENSP00000420705.2:p.Glu677Asp
ENST00000493795.5:c.5202A>T ENSP00000418775.1:p.Glu1734Asp
ENST00000586385.5:c.273A>T ENSP00000465818.1:p.Glu91Asp
ENST00000591534.5:c.816A>T ENSP00000467329.1:p.Glu272Asp
ENST00000591849.5:c.42A>T ENSP00000465347.1:p.Glu14Asp
NM_007294.3:c.5343A>T , LRG_292t1:c.5343A>T NP_009225.1:p.Glu1781Asp
NM_007297.3:c.5202A>T NP_009228.2:p.Glu1734Asp
NM_007298.3:c.2031A>T NP_009229.2:p.Glu677Asp
NM_007299.3:c.2021-1481A>T NP_009230.2:n.2021-1481A>T
NM_007300.3:c.5406A>T NP_009231.2:p.Glu1802Asp
NR_027676.1:n.5479A>T
NM_007294.4:c.5343A>T MANE Select NP_009225.1:p.Glu1781Asp
NM_007297.4:c.5202A>T NP_009228.2:p.Glu1734Asp
NM_007299.4:c.2021-1481A>T NP_009230.2:n.2021-1481A>T
NM_007300.4:c.5406A>T NP_009231.2:p.Glu1802Asp
NR_027676.2:n.5520A>T