LDH info

Canonical Allele Identifier: CA130970
Gene: ACTN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 42032
dbSNP Id: rs387907349

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.68880030G>A , CM000676.2:g.68880030G>A GRCh38
NC_000014.8:g.69346747G>A , CM000676.1:g.69346747G>A GRCh37
NC_000014.7:g.68416500G>A NCBI36
NG_029480.1:g.104337C>T , LRG_886:g.104337C>T

Transcript Alleles

HGVS Amino-acid change
NM_001102.3:c.2212C>T VV NP_001093.1:p.Arg738Trp
NM_001130004.1:c.2212C>T , LRG_886t1:c.2212C>T NP_001123476.1:p.Arg738Trp
NM_001130005.1:c.2212C>T VV NP_001123477.1:p.Arg738Trp
XM_011537265.1:c.2323C>T XP_011535567.1:p.Arg775Trp
XM_011537266.1:c.2323C>T XP_011535568.1:p.Arg775Trp
XM_011537267.1:c.2299C>T XP_011535569.1:p.Arg767Trp
XM_011537268.1:c.2299C>T XP_011535570.1:p.Arg767Trp
XM_011537269.1:c.2236C>T XP_011535571.1:p.Arg746Trp
XM_011537270.1:c.2173C>T XP_011535572.1:p.Arg725Trp
XM_011537271.1:c.2149C>T XP_011535573.1:p.Arg717Trp
XM_011537265.2:c.2323C>T XP_011535567.1:p.Arg775Trp
XM_011537266.3:c.2323C>T XP_011535568.1:p.Arg775Trp
XM_011537267.3:c.2299C>T XP_011535569.1:p.Arg767Trp
XM_011537268.3:c.2299C>T XP_011535570.1:p.Arg767Trp
XM_017021720.1:c.2323C>T XP_016877209.1:p.Arg775Trp
XM_017021721.2:c.2299C>T XP_016877210.1:p.Arg767Trp
XM_017021722.2:c.2236C>T XP_016877211.1:p.Arg746Trp
XM_017021723.2:c.2212C>T XP_016877212.1:p.Arg738Trp
XM_017021725.1:c.2173C>T XP_016877214.1:p.Arg725Trp
XM_017021726.2:c.2149C>T XP_016877215.1:p.Arg717Trp
XM_017021727.2:c.2236C>T XP_016877216.1:p.Arg746Trp
XM_017021728.2:c.2149C>T XP_016877217.1:p.Arg717Trp
NM_001102.4:c.2212C>T VV NP_001093.1:p.Arg738Trp
NM_001130005.2:c.2212C>T VV NP_001123477.1:p.Arg738Trp
ENST00000193403.10:c.2212C>T ENSP00000193403.6:p.Arg738Trp
ENST00000376839.7:c.2017C>T ENSP00000366035.3:p.Arg673Trp
ENST00000394419.8:c.2212C>T ENSP00000377941.4:p.Arg738Trp
ENST00000438964.6:c.2212C>T ENSP00000414272.2:p.Arg738Trp
ENST00000538545.6:c.2212C>T ENSP00000439828.2:p.Arg738Trp
ENST00000544964.6:n.799C>T ENSP00000444422.2:p.Arg267Trp
ENST00000553290.1:n.530C>T
ENST00000555075.5:n.369C>T
ENST00000556083.1:n.3666C>T
ENST00000556432.1:n.392C>T