Canonical Allele Identifier: CA31014417

Gene: LMNA

Linked Data

• dbSNP Id: rs991757837
• gnomAD v4: 1-156137219-A-G
• MyVariant Identifiers: chr1:g.156107010A>G (hg19) ; chr1:g.156137219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137219A>G , CM000663.2:g.156137219A>G	GRCh38
NC_000001.10:g.156107010A>G , CM000663.1:g.156107010A>G	GRCh37
NC_000001.9:g.154373634A>G	NCBI36
NG_008692.2:g.59647A>G , LRG_254:g.59647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1037A>G	ENSP00000426535.3:p.Asn346Ser
ENST00000459904.2:n.843A>G
ENST00000498722.3:n.827A>G
ENST00000682650.1:c.1595A>G	ENSP00000506904.1:p.Asn532Ser
ENST00000683032.1:c.1595A>G	ENSP00000506771.1:p.Asn532Ser
ENST00000684195.1:c.1579+16A>G	ENSP00000508220.1:n.1579+16A>G
ENST00000361308.9:c.1595A>G	ENSP00000355292.6:p.Asn532Ser
ENST00000368300.9:c.1595A>G MANE Select	ENSP00000357283.4:p.Asn532Ser
ENST00000496738.6:n.2054A>G
ENST00000674518.1:c.*945A>G	ENSP00000502261.1:n.*945A>G
ENST00000674600.1:c.*1394A>G	ENSP00000501666.1:n.*1394A>G
ENST00000674720.1:c.*157A>G	ENSP00000502798.1:n.*157A>G
ENST00000675431.1:n.1288A>G
ENST00000675455.1:c.*1395A>G	ENSP00000501795.1:n.*1395A>G
ENST00000675667.1:c.1595A>G	ENSP00000501803.1:p.Asn532Ser
ENST00000675874.1:c.*1066A>G	ENSP00000501851.1:n.*1066A>G
ENST00000675881.1:c.*606A>G	ENSP00000501670.1:n.*606A>G
ENST00000675939.1:c.1595A>G	ENSP00000502256.1:p.Asn532Ser
ENST00000675989.1:n.2454A>G
ENST00000676208.1:c.*698A>G	ENSP00000502468.1:n.*698A>G
ENST00000676283.1:n.1970A>G
ENST00000676385.2:c.1595A>G	ENSP00000502091.1:p.Asn532Ser
ENST00000676434.1:c.*606A>G	ENSP00000501648.1:n.*606A>G
ENST00000677389.1:c.1595A>G MANE Plus Clinical	ENSP00000503633.1:p.Asn532Ser
ENST00000347559.6:c.1595A>G	ENSP00000292304.3:p.Asn532Ser
ENST00000361308.8:c.1340A>G	ENSP00000355292.5:p.Asn447Ser
ENST00000368297.5:c.1352A>G	ENSP00000357280.1:p.Asn451Ser
ENST00000368298.2:n.1427A>G
ENST00000368299.7:c.1595A>G	ENSP00000357282.3:p.Asn532Ser
ENST00000368300.8:c.1595A>G	ENSP00000357283.4:p.Asn532Ser
ENST00000368301.6:c.1595A>G	ENSP00000357284.2:p.Asn532Ser
ENST00000448611.6:c.1259A>G	ENSP00000395597.2:p.Asn420Ser
ENST00000459904.1:n.843A>G
ENST00000473598.6:c.1298A>G	ENSP00000421821.1:p.Asn433Ser
ENST00000496738.5:n.1064A>G
ENST00000498722.2:n.827A>G
ENST00000508500.1:c.473A>G	ENSP00000424977.1:p.Asn158Ser
NM_001257374.2:c.1259A>G	NP_001244303.1:p.Asn420Ser
NM_001282624.1:c.1352A>G	NP_001269553.1:p.Asn451Ser
NM_001282625.1:c.1595A>G	NP_001269554.1:p.Asn532Ser
NM_001282626.1:c.1595A>G	NP_001269555.1:p.Asn532Ser
NM_005572.3:c.1595A>G , LRG_254t1:c.1595A>G	NP_005563.1:p.Asn532Ser
NM_170707.3:c.1595A>G	NP_733821.1:p.Asn532Ser
NM_170708.3:c.1595A>G	NP_733822.1:p.Asn532Ser
XM_011509533.1:c.1259A>G	XP_011507835.1:p.Asn420Ser
XM_011509534.1:c.971A>G	XP_011507836.1:p.Asn324Ser
XR_921781.1:n.1884A>G
XM_011509534.2:c.971A>G	XP_011507836.1:p.Asn324Ser
XR_921781.2:n.1882A>G
NM_170707.4:c.1595A>G MANE Select	NP_733821.1:p.Asn532Ser
NM_001257374.3:c.1259A>G	NP_001244303.1:p.Asn420Ser
NM_001282626.2:c.1595A>G	NP_001269555.1:p.Asn532Ser
NM_001282624.2:c.1352A>G	NP_001269553.1:p.Asn451Ser
NM_001282625.2:c.1595A>G	NP_001269554.1:p.Asn532Ser
NM_005572.4:c.1595A>G MANE Plus Clinical	NP_005563.1:p.Asn532Ser
NM_170708.4:c.1595A>G	NP_733822.1:p.Asn532Ser