Canonical Allele Identifier: CA016870
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 48035
dbSNP Id: rs61094188

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156136257C>T , CM000663.2:g.156136257C>T GRCh38
NC_000001.10:g.156106048C>T , CM000663.1:g.156106048C>T GRCh37
NC_000001.9:g.154372672C>T NCBI36
NG_008692.2:g.58685C>T , LRG_254:g.58685C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361308.9:c.1201C>T ENSP00000355292.6:p.Arg401Cys
ENST00000368300.9:c.1201C>T MANE Select ENSP00000357283.4:p.Arg401Cys
ENST00000496738.6:n.1576C>T
ENST00000674518.1:c.*551C>T ENSP00000502261.1:p.=
ENST00000674600.1:c.*1000C>T ENSP00000501666.1:p.=
ENST00000674720.1:c.1201C>T ENSP00000502798.1:p.Arg401Cys
ENST00000675431.1:n.894C>T
ENST00000675455.1:c.*1001C>T ENSP00000501795.1:p.=
ENST00000675667.1:c.1201C>T ENSP00000501803.1:p.Arg401Cys
ENST00000675874.1:c.*672C>T ENSP00000501851.1:p.=
ENST00000675881.1:c.*212C>T ENSP00000501670.1:p.=
ENST00000675939.1:c.1201C>T ENSP00000502256.1:p.Arg401Cys
ENST00000675989.1:n.1576C>T
ENST00000676208.1:c.*304C>T ENSP00000502468.1:p.=
ENST00000676283.1:n.1576C>T
ENST00000676385.2:c.1201C>T ENSP00000502091.1:p.Arg401Cys
ENST00000676434.1:c.*212C>T ENSP00000501648.1:p.=
ENST00000677389.1:c.1201C>T MANE Plus Clinical ENSP00000503633.1:p.Arg401Cys
ENST00000347559.6:c.1201C>T ENSP00000292304.3:p.Arg401Cys
ENST00000361308.8:c.1201C>T ENSP00000355292.5:p.Arg401Cys
ENST00000368297.5:c.958C>T ENSP00000357280.1:p.Arg320Cys
ENST00000368298.2:n.465C>T
ENST00000368299.7:c.1201C>T ENSP00000357282.3:p.Arg401Cys
ENST00000368300.8:c.1201C>T ENSP00000357283.4:p.Arg401Cys
ENST00000368301.6:c.1201C>T ENSP00000357284.2:p.Arg401Cys
ENST00000448611.6:c.865C>T ENSP00000395597.2:p.Arg289Cys
ENST00000473598.6:c.904C>T ENSP00000421821.1:p.Arg302Cys
ENST00000496738.5:n.586C>T
ENST00000498722.2:n.433C>T
ENST00000508500.1:n.79C>T ENSP00000424977.1:p.Arg27Cys
NM_001257374.2:c.865C>T NP_001244303.1:p.Arg289Cys
NM_001282624.1:c.958C>T NP_001269553.1:p.Arg320Cys
NM_001282625.1:c.1201C>T NP_001269554.1:p.Arg401Cys
NM_001282626.1:c.1201C>T NP_001269555.1:p.Arg401Cys
NM_005572.3:c.1201C>T , LRG_254t1:c.1201C>T NP_005563.1:p.Arg401Cys
NM_170707.3:c.1201C>T NP_733821.1:p.Arg401Cys
NM_170708.3:c.1201C>T NP_733822.1:p.Arg401Cys
XM_011509533.1:c.865C>T XP_011507835.1:p.Arg289Cys
XM_011509534.1:c.577C>T XP_011507836.1:p.Arg193Cys
XR_921781.1:n.1490C>T
XM_011509534.2:c.577C>T XP_011507836.1:p.Arg193Cys
XR_921781.2:n.1488C>T
NM_170707.4:c.1201C>T MANE Select NP_733821.1:p.Arg401Cys
NM_001257374.3:c.865C>T NP_001244303.1:p.Arg289Cys
NM_001282626.2:c.1201C>T NP_001269555.1:p.Arg401Cys
NM_001282624.2:c.958C>T NP_001269553.1:p.Arg320Cys
NM_001282625.2:c.1201C>T NP_001269554.1:p.Arg401Cys
NM_005572.4:c.1201C>T MANE Plus Clinical NP_005563.1:p.Arg401Cys
NM_170708.4:c.1201C>T NP_733822.1:p.Arg401Cys