Canonical Allele Identifier: CA342826932

Gene: LMNA

Linked Data

• dbSNP Id: rs1324173045
• gnomAD v2: 1-156108382-G-A
• MyVariant Identifiers: chr1:g.156108382G>A (hg19) ; chr1:g.156138591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138591G>A , CM000663.2:g.156138591G>A	GRCh38
NC_000001.10:g.156108382G>A , CM000663.1:g.156108382G>A	GRCh37
NC_000001.9:g.154375006G>A	NCBI36
NG_008692.2:g.61019G>A , LRG_254:g.61019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1244G>A	ENSP00000426535.3:p.Ser415Asn
ENST00000682650.1:c.1712G>A	ENSP00000506904.1:p.Ser571Asn
ENST00000683032.1:c.1802G>A	ENSP00000506771.1:p.Ser601Asn
ENST00000683773.1:n.147G>A
ENST00000684195.1:c.*894G>A	ENSP00000508220.1:n.*894G>A
ENST00000361308.9:c.1802G>A	ENSP00000355292.6:p.Ser601Asn
ENST00000368300.9:c.1802G>A MANE Select	ENSP00000357283.4:p.Ser601Asn
ENST00000674518.1:c.*1152G>A	ENSP00000502261.1:n.*1152G>A
ENST00000674600.1:c.*1601G>A	ENSP00000501666.1:n.*1601G>A
ENST00000675455.1:c.*1602G>A	ENSP00000501795.1:n.*1602G>A
ENST00000675667.1:c.1802G>A	ENSP00000501803.1:p.Ser601Asn
ENST00000675874.1:c.*1273G>A	ENSP00000501851.1:n.*1273G>A
ENST00000675881.1:c.*813G>A	ENSP00000501670.1:n.*813G>A
ENST00000675939.1:c.1802G>A	ENSP00000502256.1:p.Ser601Asn
ENST00000675989.1:n.3405G>A
ENST00000676208.1:c.*905G>A	ENSP00000502468.1:n.*905G>A
ENST00000676283.1:n.3342G>A
ENST00000676385.2:c.1712G>A	ENSP00000502091.1:p.Ser571Asn
ENST00000676434.1:c.*1557G>A	ENSP00000501648.1:n.*1557G>A
ENST00000347559.6:c.1712G>A	ENSP00000292304.3:p.Ser571Asn
ENST00000368299.7:c.1802G>A	ENSP00000357282.3:p.Ser601Asn
ENST00000368300.8:c.1802G>A	ENSP00000357283.4:p.Ser601Asn
ENST00000448611.6:c.1466G>A	ENSP00000395597.2:p.Ser489Asn
ENST00000473598.6:c.1505G>A	ENSP00000421821.1:p.Ser502Asn
ENST00000496738.5:n.2015G>A
ENST00000506981.1:n.386G>A
ENST00000508500.1:c.590G>A	ENSP00000424977.1:p.Ser197Asn
NM_001257374.2:c.1466G>A	NP_001244303.1:p.Ser489Asn
NM_001282626.1:c.1802G>A	NP_001269555.1:p.Ser601Asn
NM_170707.3:c.1802G>A	NP_733821.1:p.Ser601Asn
NM_170708.3:c.1712G>A	NP_733822.1:p.Ser571Asn
XM_011509533.1:c.1466G>A	XP_011507835.1:p.Ser489Asn
XM_011509534.1:c.1178G>A	XP_011507836.1:p.Ser393Asn
XR_921781.1:n.2091G>A
XM_011509534.2:c.1178G>A	XP_011507836.1:p.Ser393Asn
XR_921781.2:n.2089G>A
NM_170707.4:c.1802G>A MANE Select	NP_733821.1:p.Ser601Asn
NM_001257374.3:c.1466G>A	NP_001244303.1:p.Ser489Asn
NM_001282626.2:c.1802G>A	NP_001269555.1:p.Ser601Asn
NM_170708.4:c.1712G>A	NP_733822.1:p.Ser571Asn