Canonical Allele Identifier: CA003194
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37630
dbSNP Id: rs80358053

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067607C>A , CM000679.2:g.43067607C>A GRCh38
NC_000017.10:g.41219624C>A , CM000679.1:g.41219624C>A GRCh37
NC_000017.9:g.38473150C>A NCBI36
NG_005905.2:g.150377G>T , LRG_292:g.150377G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.5074+1G>T MANE Select ENSP00000350283.3:p.=
ENST00000471181.7:c.5137+1G>T ENSP00000418960.2:p.=
ENST00000644379.1:n.1461+1G>T
ENST00000352993.7:c.1648+1G>T ENSP00000312236.5:p.=
ENST00000357654.7:c.5074+1G>T ENSP00000350283.3:p.=
ENST00000461221.5:c.*4857+1G>T ENSP00000418548.1:p.=
ENST00000468300.5:c.1762+1G>T ENSP00000417148.1:p.=
ENST00000471181.6:c.5137+1G>T ENSP00000418960.2:p.=
ENST00000472490.1:n.228G>T
ENST00000478531.5:c.1762+1G>T ENSP00000420412.1:p.=
ENST00000484087.5:n.1387+1G>T ENSP00000419481.1:p.=
ENST00000491747.6:c.1762+1G>T ENSP00000420705.2:p.=
ENST00000493795.5:c.4933+1G>T ENSP00000418775.1:p.=
ENST00000493919.5:c.1624+1G>T ENSP00000418819.1:p.=
ENST00000586385.5:c.5-3656G>T ENSP00000465818.1:p.=
ENST00000591534.5:c.547+1G>T ENSP00000467329.1:p.=
ENST00000591849.5:c.-98-17417G>T ENSP00000465347.1:p.=
NM_007294.3:c.5074+1G>T , LRG_292t1:c.5074+1G>T NP_009225.1:p.=
NM_007297.3:c.4933+1G>T NP_009228.2:p.=
NM_007298.3:c.1762+1G>T NP_009229.2:p.=
NM_007299.3:c.1762+1G>T NP_009230.2:p.=
NM_007300.3:c.5137+1G>T NP_009231.2:p.=
NR_027676.1:n.5210+1G>T
NM_007294.4:c.5074+1G>T MANE Select NP_009225.1:p.=
NM_007297.4:c.4933+1G>T NP_009228.2:p.=
NM_007299.4:c.1762+1G>T NP_009230.2:p.=
NM_007300.4:c.5137+1G>T NP_009231.2:p.=
NR_027676.2:n.5251+1G>T