Canonical Allele Identifier: CA2838263950
Gene: LMNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156108439G>T , CM000663.2:g.156108439G>T GRCh38
NC_000001.10:g.156078230G>T , CM000663.1:g.156078230G>T GRCh37
NC_000001.9:g.154344854G>T NCBI36
NG_008692.2:g.30867G>T , LRG_254:g.30867G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496738.6:n.126+1616G>T
ENST00000674720.1:c.-250+1616G>T ENSP00000502798.1:n.-250+1616G>T
ENST00000675667.1:c.-250+1616G>T ENSP00000501803.1:n.-250+1616G>T
ENST00000675939.1:c.-206-6274G>T ENSP00000502256.1:n.-206-6274G>T
ENST00000675989.1:n.126+1616G>T
ENST00000676283.1:n.126+1616G>T
ENST00000676385.2:c.-250+3522G>T ENSP00000502091.1:n.-250+3522G>T
ENST00000368301.6:c.-206-6274G>T ENSP00000357284.2:n.-206-6274G>T
ENST00000502751.5:n.329-22178G>T
ENST00000515711.1:n.167-1074G>T
NM_001282625.1:c.-206-6274G>T NP_001269554.1:n.-206-6274G>T
NM_001282625.2:c.-206-6274G>T NP_001269554.1:n.-206-6274G>T