Canonical Allele Identifier: CA003615
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 91651
dbSNP Id: rs80358062

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047635C>T , CM000679.2:g.43047635C>T GRCh38
NC_000017.10:g.41199652C>T , CM000679.1:g.41199652C>T GRCh37
NC_000017.9:g.38453178C>T NCBI36
NG_005905.2:g.170349G>A , LRG_292:g.170349G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.5467+8G>A MANE Select ENSP00000350283.3:p.=
ENST00000471181.7:c.5530+8G>A ENSP00000418960.2:p.=
ENST00000644379.1:n.1854+8G>A
ENST00000352993.7:c.2041+8G>A ENSP00000312236.5:p.=
ENST00000357654.7:c.5467+8G>A ENSP00000350283.3:p.=
ENST00000461221.5:c.*5250+8G>A ENSP00000418548.1:p.=
ENST00000468300.5:c.2081+8G>A ENSP00000417148.1:p.=
ENST00000471181.6:c.5530+8G>A ENSP00000418960.2:p.=
ENST00000491747.6:c.2155+8G>A ENSP00000420705.2:p.=
ENST00000493795.5:c.5326+8G>A ENSP00000418775.1:p.=
ENST00000586385.5:c.397+8G>A ENSP00000465818.1:p.=
ENST00000591534.5:c.940+8G>A ENSP00000467329.1:p.=
ENST00000591849.5:c.166+8G>A ENSP00000465347.1:p.=
NM_007294.3:c.5467+8G>A , LRG_292t1:c.5467+8G>A NP_009225.1:p.=
NM_007297.3:c.5326+8G>A NP_009228.2:p.=
NM_007298.3:c.2155+8G>A NP_009229.2:p.=
NM_007299.3:c.2081+8G>A NP_009230.2:p.=
NM_007300.3:c.5530+8G>A NP_009231.2:p.=
NR_027676.1:n.5603+8G>A
NM_007294.4:c.5467+8G>A MANE Select NP_009225.1:p.=
NM_007297.4:c.5326+8G>A NP_009228.2:p.=
NM_007299.4:c.2081+8G>A NP_009230.2:p.=
NM_007300.4:c.5530+8G>A NP_009231.2:p.=
NR_027676.2:n.5644+8G>A