Canonical Allele Identifier: CA002695
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 125697
dbSNP Id: rs80358016

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082594G>A , CM000679.2:g.43082594G>A GRCh38
NC_000017.10:g.41234611G>A , CM000679.1:g.41234611G>A GRCh37
NC_000017.9:g.38488137G>A NCBI36
NG_005905.2:g.135390C>T , LRG_292:g.135390C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.4186-19C>T MANE Select ENSP00000350283.3:p.=
ENST00000471181.7:c.4186-19C>T ENSP00000418960.2:p.=
ENST00000644379.1:n.507-19C>T
ENST00000352993.7:c.760-19C>T ENSP00000312236.5:p.=
ENST00000357654.7:c.4186-19C>T ENSP00000350283.3:p.=
ENST00000461221.5:c.*3969-19C>T ENSP00000418548.1:p.=
ENST00000461574.1:n.480-19C>T
ENST00000468300.5:c.877-19C>T ENSP00000417148.1:p.=
ENST00000471181.6:c.4186-19C>T ENSP00000418960.2:p.=
ENST00000478531.5:c.874-19C>T ENSP00000420412.1:p.=
ENST00000484087.5:n.499-19C>T ENSP00000419481.1:p.=
ENST00000487825.5:n.502-19C>T ENSP00000418212.1:p.=
ENST00000491747.6:c.877-19C>T ENSP00000420705.2:p.=
ENST00000493795.5:c.4045-19C>T ENSP00000418775.1:p.=
ENST00000493919.5:c.736-19C>T ENSP00000418819.1:p.=
ENST00000586385.5:c.5-18643C>T ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-8073C>T ENSP00000467329.1:p.=
ENST00000591849.5:c.-98-32404C>T ENSP00000465347.1:p.=
ENST00000621897.1:n.80-19C>T
NM_007294.3:c.4186-19C>T , LRG_292t1:c.4186-19C>T NP_009225.1:p.=
NM_007297.3:c.4045-19C>T NP_009228.2:p.=
NM_007298.3:c.877-19C>T NP_009229.2:p.=
NM_007299.3:c.877-19C>T NP_009230.2:p.=
NM_007300.3:c.4186-19C>T NP_009231.2:p.=
NR_027676.1:n.4322-19C>T
NM_007294.4:c.4186-19C>T MANE Select NP_009225.1:p.=
NM_007297.4:c.4045-19C>T NP_009228.2:p.=
NM_007299.4:c.877-19C>T NP_009230.2:p.=
NM_007300.4:c.4186-19C>T NP_009231.2:p.=
NR_027676.2:n.4363-19C>T