Canonical Allele Identifier: CA916080725
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 868950
ClinVar RCV Id: RCV001077952

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047620A>C , CM000679.2:g.43047620A>C GRCh38
NC_000017.10:g.41199637A>C , CM000679.1:g.41199637A>C GRCh37
NC_000017.9:g.38453163A>C NCBI36
NG_005905.2:g.170364T>G , LRG_292:g.170364T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.5467+23T>G MANE Select ENSP00000350283.3:p.=
ENST00000471181.7:c.5530+23T>G ENSP00000418960.2:p.=
ENST00000644379.1:n.1854+23T>G
ENST00000352993.7:c.2041+23T>G ENSP00000312236.5:p.=
ENST00000357654.7:c.5467+23T>G ENSP00000350283.3:p.=
ENST00000461221.5:c.*5250+23T>G ENSP00000418548.1:p.=
ENST00000468300.5:c.2081+23T>G ENSP00000417148.1:p.=
ENST00000471181.6:c.5530+23T>G ENSP00000418960.2:p.=
ENST00000491747.6:c.2155+23T>G ENSP00000420705.2:p.=
ENST00000493795.5:c.5326+23T>G ENSP00000418775.1:p.=
ENST00000586385.5:c.397+23T>G ENSP00000465818.1:p.=
ENST00000591534.5:c.940+23T>G ENSP00000467329.1:p.=
ENST00000591849.5:c.166+23T>G ENSP00000465347.1:p.=
NM_007294.3:c.5467+23T>G , LRG_292t1:c.5467+23T>G NP_009225.1:p.=
NM_007297.3:c.5326+23T>G NP_009228.2:p.=
NM_007298.3:c.2155+23T>G NP_009229.2:p.=
NM_007299.3:c.2081+23T>G NP_009230.2:p.=
NM_007300.3:c.5530+23T>G NP_009231.2:p.=
NR_027676.1:n.5603+23T>G
NM_007294.4:c.5467+23T>G MANE Select NP_009225.1:p.=
NM_007297.4:c.5326+23T>G NP_009228.2:p.=
NM_007299.4:c.2081+23T>G NP_009230.2:p.=
NM_007300.4:c.5530+23T>G NP_009231.2:p.=
NR_027676.2:n.5644+23T>G