LDH info

Canonical Allele Identifier: CA016471
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 155896
ClinVar RCV Id: RCV000144027
dbSNP Id: rs587777892

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136008G>T , CM000663.2:g.156136008G>T GRCh38
NC_000001.10:g.156105799G>T , CM000663.1:g.156105799G>T GRCh37
NC_000001.9:g.154372423G>T NCBI36
NG_008692.2:g.58436G>T , LRG_254:g.58436G>T

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.708G>T VV NP_001244303.1:p.Met236Ile
NM_001282624.1:c.801G>T VV NP_001269553.1:p.Met267Ile
NM_001282625.1:c.1044G>T VV NP_001269554.1:p.Met348Ile
NM_001282626.1:c.1044G>T VV NP_001269555.1:p.Met348Ile
NM_005572.3:c.1044G>T , LRG_254t1:c.1044G>T NP_005563.1:p.Met348Ile
NM_170707.3:c.1044G>T VV NP_733821.1:p.Met348Ile
NM_170708.3:c.1044G>T VV NP_733822.1:p.Met348Ile
XM_011509533.1:c.708G>T XP_011507835.1:p.Met236Ile
XM_011509534.1:c.420G>T XP_011507836.1:p.Met140Ile
XR_921781.1:n.1333G>T
XM_011509534.2:c.420G>T XP_011507836.1:p.Met140Ile
XR_921781.2:n.1331G>T
NM_170707.4:c.1044G>T VV MANE Preferred NP_733821.1:p.Met348Ile
NM_001257374.3:c.708G>T VV NP_001244303.1:p.Met236Ile
NM_001282626.2:c.1044G>T VV NP_001269555.1:p.Met348Ile
ENST00000347559.6:c.1044G>T ENSP00000292304.3:p.Met348Ile
ENST00000361308.8:c.1044G>T ENSP00000355292.5:p.Met348Ile
ENST00000368297.5:c.801G>T ENSP00000357280.1:p.Met267Ile
ENST00000368298.2:n.308G>T
ENST00000368299.7:c.1044G>T ENSP00000357282.3:p.Met348Ile
ENST00000368300.8:c.1044G>T ENSP00000357283.4:p.Met348Ile
ENST00000368301.6:c.1044G>T ENSP00000357284.2:p.Met348Ile
ENST00000448611.6:c.708G>T ENSP00000395597.2:p.Met236Ile
ENST00000473598.6:c.747G>T ENSP00000421821.1:p.Met249Ile
ENST00000496738.5:n.429G>T
ENST00000498722.2:n.276G>T