Canonical Allele Identifier: CA342827606

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108463G>T (hg19) ; chr1:g.156138672G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138672G>T , CM000663.2:g.156138672G>T	GRCh38
NC_000001.10:g.156108463G>T , CM000663.1:g.156108463G>T	GRCh37
NC_000001.9:g.154375087G>T	NCBI36
NG_008692.2:g.61100G>T , LRG_254:g.61100G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1325G>T	ENSP00000426535.3:p.Ser442Ile
ENST00000682650.1:c.1793G>T	ENSP00000506904.1:p.Ser598Ile
ENST00000683032.1:c.1883G>T	ENSP00000506771.1:p.Ser628Ile
ENST00000683773.1:n.163+65G>T
ENST00000684195.1:c.*975G>T	ENSP00000508220.1:n.*975G>T
ENST00000361308.9:c.1883G>T	ENSP00000355292.6:p.Ser628Ile
ENST00000368300.9:c.1883G>T MANE Select	ENSP00000357283.4:p.Ser628Ile
ENST00000674518.1:c.*1233G>T	ENSP00000502261.1:n.*1233G>T
ENST00000674600.1:c.*1682G>T	ENSP00000501666.1:n.*1682G>T
ENST00000675455.1:c.*1683G>T	ENSP00000501795.1:n.*1683G>T
ENST00000675667.1:c.1883G>T	ENSP00000501803.1:p.Ser628Ile
ENST00000675874.1:c.*1354G>T	ENSP00000501851.1:n.*1354G>T
ENST00000675881.1:c.*894G>T	ENSP00000501670.1:n.*894G>T
ENST00000675939.1:c.1883G>T	ENSP00000502256.1:p.Ser628Ile
ENST00000675989.1:n.3486G>T
ENST00000676208.1:c.*986G>T	ENSP00000502468.1:n.*986G>T
ENST00000676385.2:c.1793G>T	ENSP00000502091.1:p.Ser598Ile
ENST00000676434.1:c.*1638G>T	ENSP00000501648.1:n.*1638G>T
ENST00000347559.6:c.1793G>T	ENSP00000292304.3:p.Ser598Ile
ENST00000368299.7:c.1818+65G>T	ENSP00000357282.3:n.1818+65G>T
ENST00000368300.8:c.1883G>T	ENSP00000357283.4:p.Ser628Ile
ENST00000448611.6:c.1547G>T	ENSP00000395597.2:p.Ser516Ile
ENST00000473598.6:c.1586G>T	ENSP00000421821.1:p.Ser529Ile
ENST00000496738.5:n.2096G>T
ENST00000506981.1:n.467G>T
ENST00000508500.1:c.671G>T	ENSP00000424977.1:p.Ser224Ile
NM_001257374.2:c.1547G>T	NP_001244303.1:p.Ser516Ile
NM_001282626.1:c.1818+65G>T	NP_001269555.1:n.1818+65G>T
NM_170707.3:c.1883G>T	NP_733821.1:p.Ser628Ile
NM_170708.3:c.1793G>T	NP_733822.1:p.Ser598Ile
XM_011509533.1:c.1547G>T	XP_011507835.1:p.Ser516Ile
XM_011509534.1:c.1259G>T	XP_011507836.1:p.Ser420Ile
XR_921781.1:n.2172G>T
XM_011509534.2:c.1259G>T	XP_011507836.1:p.Ser420Ile
XR_921781.2:n.2170G>T
NM_170707.4:c.1883G>T MANE Select	NP_733821.1:p.Ser628Ile
NM_001257374.3:c.1547G>T	NP_001244303.1:p.Ser516Ile
NM_001282626.2:c.1818+65G>T	NP_001269555.1:n.1818+65G>T
NM_170708.4:c.1793G>T	NP_733822.1:p.Ser598Ile