Canonical Allele Identifier: CA30998964
Community Standard Title: NC_000001.11:g.156114696C>T
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156114696C>T , CM000663.2:g.156114696C>T GRCh38
NC_000001.10:g.156084487C>T , CM000663.1:g.156084487C>T GRCh37
NC_000001.9:g.154351111C>T NCBI36
NG_008692.2:g.37124C>T , LRG_254:g.37124C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001282625.1:c.-206-17C>T NP_001269554.1:n.-206-17C>T
NM_001282625.2:c.-206-17C>T NP_001269554.1:n.-206-17C>T
NM_001282626.1:c.-223C>T NP_001269555.1:n.-223C>T
NM_005572.3:c.-223C>T , LRG_254t1:c.-223C>T NP_005563.1:n.-223C>T
NM_170707.3:c.-223C>T NP_733821.1:n.-223C>T
NM_170708.3:c.-223C>T NP_733822.1:n.-223C>T
ENST00000347559.6:c.-223C>T ENSP00000292304.3:n.-223C>T
ENST00000361308.8:c.-223C>T ENSP00000355292.5:n.-223C>T
ENST00000361308.9:c.-223C>T ENSP00000355292.6:n.-223C>T
ENST00000368301.6:c.-206-17C>T ENSP00000357284.2:n.-206-17C>T
ENST00000496738.6:n.153C>T
ENST00000502751.5:n.329-15921C>T
ENST00000515711.1:n.427C>T
ENST00000674518.1:c.-206-17C>T ENSP00000502261.1:n.-206-17C>T
ENST00000674600.1:c.-206-17C>T ENSP00000501666.1:n.-206-17C>T
ENST00000674720.1:c.-223C>T ENSP00000502798.1:n.-223C>T
ENST00000675667.1:c.-223C>T ENSP00000501803.1:n.-223C>T
ENST00000675874.1:c.-206-17C>T ENSP00000501851.1:n.-206-17C>T
ENST00000675939.1:c.-206-17C>T ENSP00000502256.1:n.-206-17C>T
ENST00000675989.1:n.153C>T
ENST00000676208.1:c.-206-17C>T ENSP00000502468.1:n.-206-17C>T
ENST00000676283.1:n.153C>T
ENST00000676385.2:c.-223C>T ENSP00000502091.1:n.-223C>T
ENST00000676434.1:c.-206-17C>T ENSP00000501648.1:n.-206-17C>T
ENST00000682650.1:c.-206-17C>T ENSP00000506904.1:n.-206-17C>T
ENST00000683032.1:c.-206-17C>T ENSP00000506771.1:n.-206-17C>T
ENST00000684195.1:c.-206-17C>T ENSP00000508220.1:n.-206-17C>T
XR_921781.1:n.27C>T
XR_921781.2:n.25C>T