Canonical Allele Identifier: CA018512
Gene: LMNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66927
ClinVar RCV Id: RCV000057448
dbSNP Id: rs267607587

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156134901C>T , CM000663.2:g.156134901C>T GRCh38
NC_000001.10:g.156104692C>T , CM000663.1:g.156104692C>T GRCh37
NC_000001.9:g.154371316C>T NCBI36
NG_008692.2:g.57329C>T , LRG_254:g.57329C>T

Transcript Alleles

HGVS Amino-acid change
NM_001257374.2:c.400C>T VV NP_001244303.1:p.Gln134Ter
NM_001282624.1:c.493C>T VV NP_001269553.1:p.Gln165Ter
NM_001282625.1:c.736C>T VV NP_001269554.1:p.Gln246Ter
NM_001282626.1:c.736C>T VV NP_001269555.1:p.Gln246Ter
NM_005572.3:c.736C>T , LRG_254t1:c.736C>T NP_005563.1:p.Gln246Ter
NM_170707.3:c.736C>T VV NP_733821.1:p.Gln246Ter
NM_170708.3:c.736C>T VV NP_733822.1:p.Gln246Ter
XM_011509533.1:c.400C>T XP_011507835.1:p.Gln134Ter
XM_011509534.1:c.72C>T XP_011507836.1:p.Cys24=
XR_921781.1:n.985C>T
XM_011509534.2:c.72C>T
XR_921781.2:n.983C>T
ENST00000347559.6:c.736C>T ENSP00000292304.3:p.Gln246Ter
ENST00000361308.8:c.736C>T ENSP00000355292.5:p.Gln246Ter
ENST00000368297.5:c.493C>T ENSP00000357280.1:p.Gln165Ter
ENST00000368299.7:c.736C>T ENSP00000357282.3:p.Gln246Ter
ENST00000368300.8:c.736C>T ENSP00000357283.4:p.Gln246Ter
ENST00000368301.6:c.736C>T ENSP00000357284.2:p.Gln246Ter
ENST00000448611.6:c.400C>T ENSP00000395597.2:p.Gln134Ter
ENST00000473598.6:c.439C>T ENSP00000421821.1:p.Gln147Ter
ENST00000496738.5:n.81C>T
ENST00000504687.5:n.487C>T ENSP00000426535.1:p.Gln163Ter
ENST00000515459.5:c.*410C>T ENSP00000424518.1:p.=
ENST00000515824.1:n.97C>T