LDH info

Canonical Allele Identifier: CA16042720
Gene: PTEN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373446
ClinVar RCV Id: RCV000412756
dbSNP Id: rs1057518425

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894085G>A , CM000672.2:g.87894085G>A GRCh38
NC_000010.10:g.89653842G>A , CM000672.1:g.89653842G>A GRCh37
NC_000010.9:g.89643822G>A NCBI36
NG_007466.2:g.35647G>A , LRG_311:g.35647G>A

Transcript Alleles

HGVS Amino-acid change
NM_000314.5:c.140G>A VV NP_000305.3:p.Arg47Lys
NM_000314.6:c.140G>A VV NP_000305.3:p.Arg47Lys
NM_001304717.2:c.659G>A VV NP_001291646.2:p.Arg220Lys
NM_001304718.1:c.-566G>A VV NP_001291647.1:p.=
XM_006717926.2:c.140G>A XP_006717989.1:p.Arg47Lys
XM_011539981.1:c.140G>A XP_011538283.1:p.Arg47Lys
XM_011539982.1:c.68+13647G>A XP_011538284.1:p.=
XR_945789.1:n.852G>A
XR_945790.1:n.852G>A
XR_945791.1:n.852G>A
NM_000314.7:c.140G>A VV NP_000305.3:p.Arg47Lys
NM_001304717.5:c.659G>A VV NP_001291646.4:p.Arg220Lys
NM_001304718.2:c.-566G>A VV NP_001291647.1:p.=
NM_000314.8:c.140G>A VV MANE Preferred NP_000305.3:p.Arg47Lys
ENST00000371953.7:c.140G>A ENSP00000361021.3:p.Arg47Lys
ENST00000462694.1:n.142G>A
ENST00000610634.1:c.38G>A ENSP00000477517.1:p.Arg13Lys