LDH info

Canonical Allele Identifier: CA017528
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14522
dbSNP Id: rs121912494

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137209G>A , CM000663.2:g.156137209G>A GRCh38
NC_000001.10:g.156107000G>A , CM000663.1:g.156107000G>A GRCh37
NC_000001.9:g.154373624G>A NCBI36
NG_008692.2:g.59637G>A , LRG_254:g.59637G>A

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.1249G>A VV NP_001244303.1:p.Ala417Thr
NM_001282624.1:c.1342G>A VV NP_001269553.1:p.Ala448Thr
NM_001282625.1:c.1585G>A VV NP_001269554.1:p.Ala529Thr
NM_001282626.1:c.1585G>A VV NP_001269555.1:p.Ala529Thr
NM_005572.3:c.1585G>A , LRG_254t1:c.1585G>A NP_005563.1:p.Ala529Thr
NM_170707.3:c.1585G>A VV NP_733821.1:p.Ala529Thr
NM_170708.3:c.1585G>A VV NP_733822.1:p.Ala529Thr
XM_011509533.1:c.1249G>A XP_011507835.1:p.Ala417Thr
XM_011509534.1:c.961G>A XP_011507836.1:p.Ala321Thr
XR_921781.1:n.1874G>A
XM_011509534.2:c.961G>A XP_011507836.1:p.Ala321Thr
XR_921781.2:n.1872G>A
NM_170707.4:c.1585G>A VV MANE Preferred NP_733821.1:p.Ala529Thr
ENST00000347559.6:c.1585G>A ENSP00000292304.3:p.Ala529Thr
ENST00000361308.8:c.1330G>A ENSP00000355292.5:p.Ala444Thr
ENST00000368297.5:c.1342G>A ENSP00000357280.1:p.Ala448Thr
ENST00000368298.2:n.1417G>A
ENST00000368299.7:c.1585G>A ENSP00000357282.3:p.Ala529Thr
ENST00000368300.8:c.1585G>A ENSP00000357283.4:p.Ala529Thr
ENST00000368301.6:c.1585G>A ENSP00000357284.2:p.Ala529Thr
ENST00000448611.6:c.1249G>A ENSP00000395597.2:p.Ala417Thr
ENST00000459904.1:n.833G>A
ENST00000473598.6:c.1288G>A ENSP00000421821.1:p.Ala430Thr
ENST00000496738.5:n.1054G>A
ENST00000498722.2:n.817G>A
ENST00000508500.1:n.463G>A ENSP00000424977.1:p.Ala155Thr