Canonical Allele Identifier: CA342827858

Gene: LMNA

Linked Data

• dbSNP Id: rs144851946
• gnomAD v4: 1-156138701-G-C
• MyVariant Identifiers: chr1:g.156108492G>C (hg19) ; chr1:g.156138701G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138701G>C , CM000663.2:g.156138701G>C	GRCh38
NC_000001.10:g.156108492G>C , CM000663.1:g.156108492G>C	GRCh37
NC_000001.9:g.154375116G>C	NCBI36
NG_008692.2:g.61129G>C , LRG_254:g.61129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1354G>C	ENSP00000426535.3:p.Gly452Arg
ENST00000682650.1:c.1822G>C	ENSP00000506904.1:p.Gly608Arg
ENST00000683032.1:c.1912G>C	ENSP00000506771.1:p.Gly638Arg
ENST00000683773.1:n.163+94G>C
ENST00000684195.1:c.*1004G>C	ENSP00000508220.1:n.*1004G>C
ENST00000361308.9:c.1912G>C	ENSP00000355292.6:p.Gly638Arg
ENST00000368300.9:c.1912G>C MANE Select	ENSP00000357283.4:p.Gly638Arg
ENST00000674518.1:c.*1262G>C	ENSP00000502261.1:n.*1262G>C
ENST00000674600.1:c.*1711G>C	ENSP00000501666.1:n.*1711G>C
ENST00000675455.1:c.*1712G>C	ENSP00000501795.1:n.*1712G>C
ENST00000675667.1:c.1912G>C	ENSP00000501803.1:p.Gly638Arg
ENST00000675874.1:c.*1383G>C	ENSP00000501851.1:n.*1383G>C
ENST00000675881.1:c.*923G>C	ENSP00000501670.1:n.*923G>C
ENST00000675939.1:c.1912G>C	ENSP00000502256.1:p.Gly638Arg
ENST00000675989.1:n.3515G>C
ENST00000676208.1:c.*1015G>C	ENSP00000502468.1:n.*1015G>C
ENST00000676385.2:c.1822G>C	ENSP00000502091.1:p.Gly608Arg
ENST00000676434.1:c.*1667G>C	ENSP00000501648.1:n.*1667G>C
ENST00000347559.6:c.1822G>C	ENSP00000292304.3:p.Gly608Arg
ENST00000368299.7:c.1818+94G>C	ENSP00000357282.3:n.1818+94G>C
ENST00000368300.8:c.1912G>C	ENSP00000357283.4:p.Gly638Arg
ENST00000448611.6:c.1576G>C	ENSP00000395597.2:p.Gly526Arg
ENST00000473598.6:c.1615G>C	ENSP00000421821.1:p.Gly539Arg
ENST00000496738.5:n.2125G>C
ENST00000506981.1:n.496G>C
ENST00000508500.1:c.700G>C	ENSP00000424977.1:p.Gly234Arg
NM_001257374.2:c.1576G>C	NP_001244303.1:p.Gly526Arg
NM_001282626.1:c.1818+94G>C	NP_001269555.1:n.1818+94G>C
NM_170707.3:c.1912G>C	NP_733821.1:p.Gly638Arg
NM_170708.3:c.1822G>C	NP_733822.1:p.Gly608Arg
XM_011509533.1:c.1576G>C	XP_011507835.1:p.Gly526Arg
XM_011509534.1:c.1288G>C	XP_011507836.1:p.Gly430Arg
XR_921781.1:n.2201G>C
XM_011509534.2:c.1288G>C	XP_011507836.1:p.Gly430Arg
XR_921781.2:n.2199G>C
NM_170707.4:c.1912G>C MANE Select	NP_733821.1:p.Gly638Arg
NM_001257374.3:c.1576G>C	NP_001244303.1:p.Gly526Arg
NM_001282626.2:c.1818+94G>C	NP_001269555.1:n.1818+94G>C
NM_170708.4:c.1822G>C	NP_733822.1:p.Gly608Arg