LDH info

Canonical Allele Identifier: CA16040752
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370211
ClinVar RCV Id: RCV000412480
dbSNP Id: rs1057516318

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46194272A>G , CM000663.2:g.46194272A>G GRCh38
NC_000001.10:g.46659944A>G , CM000663.1:g.46659944A>G GRCh37
NC_000001.9:g.46432531A>G NCBI36
NG_009205.2:g.31034T>C

Transcript Alleles

HGVS Amino-acid change
NM_001243766.1:c.879+2T>C (POMGNT1) VV NP_001230695.1:p.=
NM_001290129.1:c.813+2T>C (POMGNT1) VV NP_001277058.1:p.=
NM_001290130.1:c.450+2T>C (POMGNT1) VV NP_001277059.1:p.=
NM_017739.3:c.879+2T>C (POMGNT1) VV NP_060209.3:p.=
XM_005271010.1:c.879+2T>C (POMGNT1) XP_005271067.1:p.=
XM_006710755.1:c.879+2T>C (POMGNT1) XP_006710818.1:p.=
XM_006710756.1:c.879+2T>C (POMGNT1) XP_006710819.1:p.=
XM_011540460.1:c.679-1930A>G (TSPAN1) XP_011538762.1:p.=
XM_011540461.1:c.634-1930A>G (TSPAN1) XP_011538763.1:p.=
XM_011541759.1:c.813+2T>C (POMGNT1) XP_011540061.1:p.=
XM_011541760.1:c.813+2T>C (POMGNT1) XP_011540062.1:p.=
XM_011541761.1:c.-215+2T>C (POMGNT1) XP_011540063.1:p.=
XR_946706.1:n.1038+2T>C (POMGNT1)
XM_011540460.3:c.679-1930A>G (TSPAN1) XP_011538762.1:p.=
XM_011541760.3:c.813+2T>C (POMGNT1) XP_011540062.1:p.=
XM_017001690.1:c.879+2T>C (POMGNT1) XP_016857179.1:p.=
ENST00000371984.7:c.879+2T>C ENSP00000361052.3:p.=
ENST00000371992.1:c.879+2T>C ENSP00000361060.1:p.=
ENST00000396420.7:c.*158+2T>C ENSP00000379698.3:p.=
ENST00000477114.1:n.227+2T>C