LDH info

Canonical Allele Identifier: CA002864
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 162502
dbSNP Id: rs138608489

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076504C>A , CM000679.2:g.43076504C>A GRCh38
NC_000017.10:g.41228521C>A , CM000679.1:g.41228521C>A GRCh37
NC_000017.9:g.38482047C>A NCBI36
NG_005905.2:g.141480G>T , LRG_292:g.141480G>T

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.4468G>T , LRG_292t1:c.4468G>T NP_009225.1:p.Glu1490Ter
NM_007297.3:c.4327G>T VV NP_009228.2:p.Glu1443Ter
NM_007298.3:c.1156G>T VV NP_009229.2:p.Glu386Ter
NM_007299.3:c.1156G>T VV NP_009230.2:p.Glu386Ter
NM_007300.3:c.4531G>T VV NP_009231.2:p.Glu1511Ter
NR_027676.1:n.4604G>T
ENST00000352993.7:c.1042G>T ENSP00000312236.5:p.Glu348Ter
ENST00000357654.7:c.4468G>T ENSP00000350283.3:p.Glu1490Ter
ENST00000461221.5:c.*4251G>T ENSP00000418548.1:p.=
ENST00000468300.5:c.1156G>T ENSP00000417148.1:p.Glu386Ter
ENST00000471181.6:c.4531G>T ENSP00000418960.2:p.Glu1511Ter
ENST00000478531.5:c.1156G>T ENSP00000420412.1:p.Glu386Ter
ENST00000484087.5:n.781G>T ENSP00000419481.1:p.Glu261Ter
ENST00000487825.5:n.784G>T ENSP00000418212.1:p.Glu262Ter
ENST00000491747.6:c.1156G>T ENSP00000420705.2:p.Glu386Ter
ENST00000493795.5:c.4327G>T ENSP00000418775.1:p.Glu1443Ter
ENST00000493919.5:c.1018G>T ENSP00000418819.1:p.Glu340Ter
ENST00000586385.5:c.5-12553G>T ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-1983G>T ENSP00000467329.1:p.=
ENST00000591849.5:c.-98-26314G>T ENSP00000465347.1:p.=
ENST00000621897.1:n.359G>T