LDH info

Canonical Allele Identifier: CA018144
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48068
dbSNP Id: rs267607594

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156130745T>C , CM000663.2:g.156130745T>C GRCh38
NC_000001.10:g.156100536T>C , CM000663.1:g.156100536T>C GRCh37
NC_000001.9:g.154367160T>C NCBI36
NG_008692.2:g.53173T>C , LRG_254:g.53173T>C

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.149T>C VV NP_001244303.1:p.Leu50Pro
NM_001282624.1:c.242T>C VV NP_001269553.1:p.Leu81Pro
NM_001282625.1:c.485T>C VV NP_001269554.1:p.Leu162Pro
NM_001282626.1:c.485T>C VV NP_001269555.1:p.Leu162Pro
NM_005572.3:c.485T>C , LRG_254t1:c.485T>C NP_005563.1:p.Leu162Pro
NM_170707.3:c.485T>C VV NP_733821.1:p.Leu162Pro
NM_170708.3:c.485T>C VV NP_733822.1:p.Leu162Pro
XM_011509533.1:c.149T>C XP_011507835.1:p.Leu50Pro
XM_011509534.1:c.-180T>C XP_011507836.1:p.=
XR_921781.1:n.734T>C
XM_011509534.2:c.-180T>C XP_011507836.1:p.=
XR_921781.2:n.732T>C
NM_170707.4:c.485T>C VV MANE Preferred NP_733821.1:p.Leu162Pro
ENST00000347559.6:c.485T>C ENSP00000292304.3:p.Leu162Pro
ENST00000361308.8:c.485T>C ENSP00000355292.5:p.Leu162Pro
ENST00000368297.5:c.242T>C ENSP00000357280.1:p.Leu81Pro
ENST00000368299.7:c.485T>C ENSP00000357282.3:p.Leu162Pro
ENST00000368300.8:c.485T>C ENSP00000357283.4:p.Leu162Pro
ENST00000368301.6:c.485T>C ENSP00000357284.2:p.Leu162Pro
ENST00000448611.6:c.149T>C ENSP00000395597.2:p.Leu50Pro
ENST00000469565.6:n.519T>C
ENST00000470199.2:n.427T>C
ENST00000473598.6:c.188T>C ENSP00000421821.1:p.Leu63Pro
ENST00000502357.5:n.383T>C
ENST00000502751.5:n.457T>C
ENST00000504687.5:n.236T>C ENSP00000426535.1:p.Leu79Pro
ENST00000515459.5:c.*159T>C ENSP00000424518.1:p.=