LDH info

Canonical Allele Identifier: CA10584559
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 246072
ClinVar RCV Id: RCV000236428
dbSNP Id: rs879254079

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091779C>T , CM000679.2:g.43091779C>T GRCh38
NC_000017.10:g.41243796C>T , CM000679.1:g.41243796C>T GRCh37
NC_000017.9:g.38497322C>T NCBI36
NG_005905.2:g.126205G>A , LRG_292:g.126205G>A

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.3752G>A , LRG_292t1:c.3752G>A NP_009225.1:p.Cys1251Tyr
NM_007297.3:c.3611G>A VV NP_009228.2:p.Cys1204Tyr
NM_007298.3:c.788-747G>A VV NP_009229.2:p.=
NM_007299.3:c.788-747G>A VV NP_009230.2:p.=
NM_007300.3:c.3752G>A VV NP_009231.2:p.Cys1251Tyr
NR_027676.1:n.3888G>A
NM_007294.4:c.3752G>A VV MANE Preferred NP_009225.1:p.Cys1251Tyr
NM_007297.4:c.3611G>A VV NP_009228.2:p.Cys1204Tyr
NM_007299.4:c.788-747G>A VV NP_009230.2:p.=
NM_007300.4:c.3752G>A VV NP_009231.2:p.Cys1251Tyr
NR_027676.2:n.3929G>A
ENST00000352993.7:c.671-747G>A ENSP00000312236.5:p.=
ENST00000354071.7:c.3752G>A ENSP00000326002.7:p.Cys1251Tyr
ENST00000357654.7:c.3752G>A ENSP00000350283.3:p.Cys1251Tyr
ENST00000461221.5:c.*3535G>A ENSP00000418548.1:p.=
ENST00000461574.1:n.46G>A
ENST00000468300.5:c.788-747G>A ENSP00000417148.1:p.=
ENST00000471181.6:c.3752G>A ENSP00000418960.2:p.Cys1251Tyr
ENST00000478531.5:c.785-747G>A ENSP00000420412.1:p.=
ENST00000484087.5:n.410-747G>A ENSP00000419481.1:p.=
ENST00000487825.5:n.413-747G>A ENSP00000418212.1:p.=
ENST00000491747.6:c.788-747G>A ENSP00000420705.2:p.=
ENST00000493795.5:c.3611G>A ENSP00000418775.1:p.Cys1204Tyr
ENST00000493919.5:c.647-747G>A ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27828G>A ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17258G>A ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33492G>A ENSP00000465347.1:p.=