LDH info

Canonical Allele Identifier: CA017471
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 200946
ClinVar RCV Id: RCV000182372
dbSNP Id: rs201583907

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156137191G>C , CM000663.2:g.156137191G>C GRCh38
NC_000001.10:g.156106982G>C , CM000663.1:g.156106982G>C GRCh37
NC_000001.9:g.154373606G>C NCBI36
NG_008692.2:g.59619G>C , LRG_254:g.59619G>C

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.1231G>C VV NP_001244303.1:p.Gly411Arg
NM_001282624.1:c.1324G>C VV NP_001269553.1:p.Gly442Arg
NM_001282625.1:c.1567G>C VV NP_001269554.1:p.Gly523Arg
NM_001282626.1:c.1567G>C VV NP_001269555.1:p.Gly523Arg
NM_005572.3:c.1567G>C , LRG_254t1:c.1567G>C NP_005563.1:p.Gly523Arg
NM_170707.3:c.1567G>C VV NP_733821.1:p.Gly523Arg
NM_170708.3:c.1567G>C VV NP_733822.1:p.Gly523Arg
XM_011509533.1:c.1231G>C XP_011507835.1:p.Gly411Arg
XM_011509534.1:c.943G>C XP_011507836.1:p.Gly315Arg
XR_921781.1:n.1856G>C
XM_011509534.2:c.943G>C XP_011507836.1:p.Gly315Arg
XR_921781.2:n.1854G>C
NM_170707.4:c.1567G>C VV MANE Preferred NP_733821.1:p.Gly523Arg
ENST00000347559.6:c.1567G>C ENSP00000292304.3:p.Gly523Arg
ENST00000361308.8:c.1312G>C ENSP00000355292.5:p.Gly438Arg
ENST00000368297.5:c.1324G>C ENSP00000357280.1:p.Gly442Arg
ENST00000368298.2:n.1399G>C
ENST00000368299.7:c.1567G>C ENSP00000357282.3:p.Gly523Arg
ENST00000368300.8:c.1567G>C ENSP00000357283.4:p.Gly523Arg
ENST00000368301.6:c.1567G>C ENSP00000357284.2:p.Gly523Arg
ENST00000448611.6:c.1231G>C ENSP00000395597.2:p.Gly411Arg
ENST00000459904.1:n.815G>C
ENST00000473598.6:c.1270G>C ENSP00000421821.1:p.Gly424Arg
ENST00000496738.5:n.1036G>C
ENST00000498722.2:n.799G>C
ENST00000508500.1:n.445G>C ENSP00000424977.1:p.Gly149Arg