Canonical Allele Identifier: CA055087
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372004
ClinVar RCV Id: RCV000411389
dbSNP Id: rs779046757

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047621C>G , CM000679.2:g.43047621C>G GRCh38
NC_000017.10:g.41199638C>G , CM000679.1:g.41199638C>G GRCh37
NC_000017.9:g.38453164C>G NCBI36
NG_005905.2:g.170363G>C , LRG_292:g.170363G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.5467+22G>C MANE Select ENSP00000350283.3:p.=
ENST00000471181.7:c.5530+22G>C ENSP00000418960.2:p.=
ENST00000644379.1:n.1854+22G>C
ENST00000352993.7:c.2041+22G>C ENSP00000312236.5:p.=
ENST00000357654.7:c.5467+22G>C ENSP00000350283.3:p.=
ENST00000461221.5:c.*5250+22G>C ENSP00000418548.1:p.=
ENST00000468300.5:c.2081+22G>C ENSP00000417148.1:p.=
ENST00000471181.6:c.5530+22G>C ENSP00000418960.2:p.=
ENST00000491747.6:c.2155+22G>C ENSP00000420705.2:p.=
ENST00000493795.5:c.5326+22G>C ENSP00000418775.1:p.=
ENST00000586385.5:c.397+22G>C ENSP00000465818.1:p.=
ENST00000591534.5:c.940+22G>C ENSP00000467329.1:p.=
ENST00000591849.5:c.166+22G>C ENSP00000465347.1:p.=
NM_007294.3:c.5467+22G>C , LRG_292t1:c.5467+22G>C NP_009225.1:p.=
NM_007297.3:c.5326+22G>C NP_009228.2:p.=
NM_007298.3:c.2155+22G>C NP_009229.2:p.=
NM_007299.3:c.2081+22G>C NP_009230.2:p.=
NM_007300.3:c.5530+22G>C NP_009231.2:p.=
NR_027676.1:n.5603+22G>C
NM_007294.4:c.5467+22G>C MANE Select NP_009225.1:p.=
NM_007297.4:c.5326+22G>C NP_009228.2:p.=
NM_007299.4:c.2081+22G>C NP_009230.2:p.=
NM_007300.4:c.5530+22G>C NP_009231.2:p.=
NR_027676.2:n.5644+22G>C