Canonical Allele Identifier: CA003221
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 55387
dbSNP Id: rs80356896
MyVariant Identifiers: chr17:g.41215963C>A (hg19) chr17:g.43063946C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063946C>A , CM000679.2:g.43063946C>A GRCh38
NC_000017.9:g.38469489C>A NCBI36
NC_000017.10:g.41215963C>A , CM000679.1:g.41215963C>A GRCh37
NG_005905.2:g.154038G>T , LRG_292:g.154038G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352993.7:c.1654G>T ENSP00000312236.5:p.Glu552Ter
ENST00000357654.7:c.5080G>T ENSP00000350283.3:p.Glu1694Ter
ENST00000461221.5:c.*4863G>T ENSP00000418548.1:p.=
ENST00000468300.5:c.1768G>T ENSP00000417148.1:p.Glu590Ter
ENST00000471181.6:c.5143G>T ENSP00000418960.2:p.Glu1715Ter
ENST00000478531.5:c.1768G>T ENSP00000420412.1:p.Glu590Ter
ENST00000484087.5:n.1393G>T ENSP00000419481.1:p.Glu465Ter
ENST00000491747.6:c.1768G>T ENSP00000420705.2:p.Glu590Ter
ENST00000493795.5:c.4939G>T ENSP00000418775.1:p.Glu1647Ter
ENST00000493919.5:c.1630G>T ENSP00000418819.1:p.Glu544Ter
ENST00000586385.5:c.10G>T ENSP00000465818.1:p.Glu4Ter
ENST00000591534.5:c.553G>T ENSP00000467329.1:p.Glu185Ter
ENST00000591849.5:c.-98-13756G>T ENSP00000465347.1:p.=
NM_007294.3:c.5080G>T , LRG_292t1:c.5080G>T NP_009225.1:p.Glu1694Ter
NM_007297.3:c.4939G>T NP_009228.2:p.Glu1647Ter
NM_007298.3:c.1768G>T NP_009229.2:p.Glu590Ter
NM_007299.3:c.1768G>T NP_009230.2:p.Glu590Ter
NM_007300.3:c.5143G>T NP_009231.2:p.Glu1715Ter
NR_027676.1:n.5216G>T