LDH info

Canonical Allele Identifier: CA016670
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14523
dbSNP Id: rs121912495

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136103T>C , CM000663.2:g.156136103T>C GRCh38
NC_000001.10:g.156105894T>C , CM000663.1:g.156105894T>C GRCh37
NC_000001.9:g.154372518T>C NCBI36
NG_008692.2:g.58531T>C , LRG_254:g.58531T>C

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.803T>C VV NP_001244303.1:p.Leu268Ser
NM_001282624.1:c.896T>C VV NP_001269553.1:p.Leu299Ser
NM_001282625.1:c.1139T>C VV NP_001269554.1:p.Leu380Ser
NM_001282626.1:c.1139T>C VV NP_001269555.1:p.Leu380Ser
NM_005572.3:c.1139T>C , LRG_254t1:c.1139T>C NP_005563.1:p.Leu380Ser
NM_170707.3:c.1139T>C VV NP_733821.1:p.Leu380Ser
NM_170708.3:c.1139T>C VV NP_733822.1:p.Leu380Ser
XM_011509533.1:c.803T>C XP_011507835.1:p.Leu268Ser
XM_011509534.1:c.515T>C XP_011507836.1:p.Leu172Ser
XR_921781.1:n.1428T>C
XM_011509534.2:c.515T>C XP_011507836.1:p.Leu172Ser
XR_921781.2:n.1426T>C
NM_170707.4:c.1139T>C VV MANE Preferred NP_733821.1:p.Leu380Ser
ENST00000347559.6:c.1139T>C ENSP00000292304.3:p.Leu380Ser
ENST00000361308.8:c.1139T>C ENSP00000355292.5:p.Leu380Ser
ENST00000368297.5:c.896T>C ENSP00000357280.1:p.Leu299Ser
ENST00000368298.2:n.403T>C
ENST00000368299.7:c.1139T>C ENSP00000357282.3:p.Leu380Ser
ENST00000368300.8:c.1139T>C ENSP00000357283.4:p.Leu380Ser
ENST00000368301.6:c.1139T>C ENSP00000357284.2:p.Leu380Ser
ENST00000448611.6:c.803T>C ENSP00000395597.2:p.Leu268Ser
ENST00000473598.6:c.842T>C ENSP00000421821.1:p.Leu281Ser
ENST00000496738.5:n.524T>C
ENST00000498722.2:n.371T>C
ENST00000508500.1:n.17T>C ENSP00000424977.1:p.Leu6Ser