Canonical Allele Identifier: CA31015333

Gene: LMNA

Linked Data

• dbSNP Id: rs1131336
• MyVariant Identifiers: chr1:g.156108278G>C (hg19) ; chr1:g.156138487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138487G>C , CM000663.2:g.156138487G>C	GRCh38
NC_000001.10:g.156108278G>C , CM000663.1:g.156108278G>C	GRCh37
NC_000001.9:g.154374902G>C	NCBI36
NG_008692.2:g.60915G>C , LRG_254:g.60915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1141-1G>C	ENSP00000426535.3:n.1141-1G>C
ENST00000682650.1:c.1609-1G>C	ENSP00000506904.1:n.1609-1G>C
ENST00000683032.1:c.1699-1G>C	ENSP00000506771.1:n.1699-1G>C
ENST00000683773.1:n.44-1G>C
ENST00000684195.1:c.*790G>C	ENSP00000508220.1:n.*790G>C
ENST00000361308.9:c.1699-1G>C	ENSP00000355292.6:n.1699-1G>C
ENST00000368300.9:c.1699-1G>C MANE Select	ENSP00000357283.4:n.1699-1G>C
ENST00000496738.6:n.2901G>C
ENST00000674518.1:c.*1049-1G>C	ENSP00000502261.1:n.*1049-1G>C
ENST00000674600.1:c.*1498-1G>C	ENSP00000501666.1:n.*1498-1G>C
ENST00000674720.1:c.*1004G>C	ENSP00000502798.1:n.*1004G>C
ENST00000675455.1:c.*1499-1G>C	ENSP00000501795.1:n.*1499-1G>C
ENST00000675667.1:c.1699-1G>C	ENSP00000501803.1:n.1699-1G>C
ENST00000675874.1:c.*1170-1G>C	ENSP00000501851.1:n.*1170-1G>C
ENST00000675881.1:c.*710-1G>C	ENSP00000501670.1:n.*710-1G>C
ENST00000675939.1:c.1699-1G>C	ENSP00000502256.1:n.1699-1G>C
ENST00000675989.1:n.3301G>C
ENST00000676208.1:c.*802-1G>C	ENSP00000502468.1:n.*802-1G>C
ENST00000676283.1:n.3238G>C
ENST00000676385.2:c.1609-1G>C	ENSP00000502091.1:n.1609-1G>C
ENST00000676434.1:c.*1453G>C	ENSP00000501648.1:n.*1453G>C
ENST00000347559.6:c.1609-1G>C	ENSP00000292304.3:n.1609-1G>C
ENST00000368299.7:c.1699-1G>C	ENSP00000357282.3:n.1699-1G>C
ENST00000368300.8:c.1699-1G>C	ENSP00000357283.4:n.1699-1G>C
ENST00000448611.6:c.1363-1G>C	ENSP00000395597.2:n.1363-1G>C
ENST00000473598.6:c.1402-1G>C	ENSP00000421821.1:n.1402-1G>C
ENST00000496738.5:n.1911G>C
ENST00000506981.1:n.283-1G>C
ENST00000508500.1:c.487-1G>C	ENSP00000424977.1:n.487-1G>C
NM_001257374.2:c.1363-1G>C	NP_001244303.1:n.1363-1G>C
NM_001282626.1:c.1699-1G>C	NP_001269555.1:n.1699-1G>C
NM_170707.3:c.1699-1G>C	NP_733821.1:n.1699-1G>C
NM_170708.3:c.1609-1G>C	NP_733822.1:n.1609-1G>C
XM_011509533.1:c.1363-1G>C	XP_011507835.1:n.1363-1G>C
XM_011509534.1:c.1075-1G>C	XP_011507836.1:n.1075-1G>C
XR_921781.1:n.1988-1G>C
XM_011509534.2:c.1075-1G>C	XP_011507836.1:n.1075-1G>C
XR_921781.2:n.1986-1G>C
NM_170707.4:c.1699-1G>C MANE Select	NP_733821.1:n.1699-1G>C
NM_001257374.3:c.1363-1G>C	NP_001244303.1:n.1363-1G>C
NM_001282626.2:c.1699-1G>C	NP_001269555.1:n.1699-1G>C
NM_170708.4:c.1609-1G>C	NP_733822.1:n.1609-1G>C