Canonical Allele Identifier: CA342825453

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156107472T>G (hg19) ; chr1:g.156137681T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137681T>G , CM000663.2:g.156137681T>G	GRCh38
NC_000001.10:g.156107472T>G , CM000663.1:g.156107472T>G	GRCh37
NC_000001.9:g.154374096T>G	NCBI36
NG_008692.2:g.60109T>G , LRG_254:g.60109T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1078T>G	ENSP00000426535.3:p.Ser360Ala
ENST00000498722.3:n.868T>G
ENST00000682650.1:c.1608+449T>G	ENSP00000506904.1:n.1608+449T>G
ENST00000683032.1:c.1636T>G	ENSP00000506771.1:p.Ser546Ala
ENST00000684195.1:c.1607T>G	ENSP00000508220.1:p.Leu536Arg
ENST00000361308.9:c.1636T>G	ENSP00000355292.6:p.Ser546Ala
ENST00000368300.9:c.1636T>G MANE Select	ENSP00000357283.4:p.Ser546Ala
ENST00000496738.6:n.2095T>G
ENST00000674518.1:c.*986T>G	ENSP00000502261.1:n.*986T>G
ENST00000674600.1:c.*1435T>G	ENSP00000501666.1:n.*1435T>G
ENST00000674720.1:c.*198T>G	ENSP00000502798.1:n.*198T>G
ENST00000675431.1:n.1329T>G
ENST00000675455.1:c.*1436T>G	ENSP00000501795.1:n.*1436T>G
ENST00000675667.1:c.1636T>G	ENSP00000501803.1:p.Ser546Ala
ENST00000675874.1:c.*1107T>G	ENSP00000501851.1:n.*1107T>G
ENST00000675881.1:c.*647T>G	ENSP00000501670.1:n.*647T>G
ENST00000675939.1:c.1636T>G	ENSP00000502256.1:p.Ser546Ala
ENST00000675989.1:n.2495T>G
ENST00000676208.1:c.*739T>G	ENSP00000502468.1:n.*739T>G
ENST00000676283.1:n.2432T>G
ENST00000676385.2:c.1608+449T>G	ENSP00000502091.1:n.1608+449T>G
ENST00000676434.1:c.*647T>G	ENSP00000501648.1:n.*647T>G
ENST00000677389.1:c.1636T>G MANE Plus Clinical	ENSP00000503633.1:p.Ser546Ala
ENST00000347559.6:c.1608+449T>G	ENSP00000292304.3:n.1608+449T>G
ENST00000361308.8:c.1381T>G	ENSP00000355292.5:p.Ser461Ala
ENST00000368297.5:c.1393T>G	ENSP00000357280.1:p.Ser465Ala
ENST00000368299.7:c.1636T>G	ENSP00000357282.3:p.Ser546Ala
ENST00000368300.8:c.1636T>G	ENSP00000357283.4:p.Ser546Ala
ENST00000368301.6:c.1636T>G	ENSP00000357284.2:p.Ser546Ala
ENST00000448611.6:c.1300T>G	ENSP00000395597.2:p.Ser434Ala
ENST00000473598.6:c.1339T>G	ENSP00000421821.1:p.Ser447Ala
ENST00000496738.5:n.1105T>G
ENST00000498722.2:n.868T>G
ENST00000506981.1:n.220T>G
ENST00000508500.1:c.486+449T>G	ENSP00000424977.1:n.486+449T>G
NM_001257374.2:c.1300T>G	NP_001244303.1:p.Ser434Ala
NM_001282624.1:c.1393T>G	NP_001269553.1:p.Ser465Ala
NM_001282625.1:c.1636T>G	NP_001269554.1:p.Ser546Ala
NM_001282626.1:c.1636T>G	NP_001269555.1:p.Ser546Ala
NM_005572.3:c.1636T>G , LRG_254t1:c.1636T>G	NP_005563.1:p.Ser546Ala
NM_170707.3:c.1636T>G	NP_733821.1:p.Ser546Ala
NM_170708.3:c.1608+449T>G	NP_733822.1:n.1608+449T>G
XM_011509533.1:c.1300T>G	XP_011507835.1:p.Ser434Ala
XM_011509534.1:c.1012T>G	XP_011507836.1:p.Ser338Ala
XR_921781.1:n.1925T>G
XM_011509534.2:c.1012T>G	XP_011507836.1:p.Ser338Ala
XR_921781.2:n.1923T>G
NM_170707.4:c.1636T>G MANE Select	NP_733821.1:p.Ser546Ala
NM_001257374.3:c.1300T>G	NP_001244303.1:p.Ser434Ala
NM_001282626.2:c.1636T>G	NP_001269555.1:p.Ser546Ala
NM_001282624.2:c.1393T>G	NP_001269553.1:p.Ser465Ala
NM_001282625.2:c.1636T>G	NP_001269554.1:p.Ser546Ala
NM_005572.4:c.1636T>G MANE Plus Clinical	NP_005563.1:p.Ser546Ala
NM_170708.4:c.1608+449T>G	NP_733822.1:n.1608+449T>G