Canonical Allele Identifier: CA347068

Gene: LMNA

Linked Data

• ClinVar Variation Id: 162417
• ClinVar RCV Id: RCV000192020 ; RCV000190823
• dbSNP Id: rs797044488
• MyVariant Identifiers: chr1:g.156108553G>A (hg19) ; chr1:g.156138762G>A (hg38)
• PubMed: PMID:15317753 ; PMID:20301300 ; PMID:22065502 ; PMID:25649378

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138762G>A , CM000663.2:g.156138762G>A	GRCh38
NC_000001.10:g.156108553G>A , CM000663.1:g.156108553G>A	GRCh37
NC_000001.9:g.154375177G>A	NCBI36
NG_008692.2:g.61190G>A , LRG_254:g.61190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1410+5G>A	ENSP00000426535.3:n.1410+5G>A
ENST00000682650.1:c.1878+5G>A	ENSP00000506904.1:n.1878+5G>A
ENST00000683032.1:c.1968+5G>A	ENSP00000506771.1:n.1968+5G>A
ENST00000683773.1:n.163+155G>A
ENST00000684195.1:c.*1060+5G>A	ENSP00000508220.1:n.*1060+5G>A
ENST00000361308.9:c.1968+5G>A	ENSP00000355292.6:n.1968+5G>A
ENST00000368300.9:c.1968+5G>A MANE Select	ENSP00000357283.4:n.1968+5G>A
ENST00000674518.1:c.*1318+5G>A	ENSP00000502261.1:n.*1318+5G>A
ENST00000674600.1:c.*1767+5G>A	ENSP00000501666.1:n.*1767+5G>A
ENST00000675455.1:c.*1768+5G>A	ENSP00000501795.1:n.*1768+5G>A
ENST00000675667.1:c.1973G>A	ENSP00000501803.1:p.Ser658Asn
ENST00000675874.1:c.*1439+5G>A	ENSP00000501851.1:n.*1439+5G>A
ENST00000675881.1:c.*979+5G>A	ENSP00000501670.1:n.*979+5G>A
ENST00000675939.1:c.1968+5G>A	ENSP00000502256.1:n.1968+5G>A
ENST00000675989.1:n.3571+5G>A
ENST00000676208.1:c.*1071+5G>A	ENSP00000502468.1:n.*1071+5G>A
ENST00000676385.2:c.1878+5G>A	ENSP00000502091.1:n.1878+5G>A
ENST00000676434.1:c.*1728G>A	ENSP00000501648.1:n.*1728G>A
ENST00000347559.6:c.1878+5G>A	ENSP00000292304.3:n.1878+5G>A
ENST00000368299.7:c.1818+155G>A	ENSP00000357282.3:n.1818+155G>A
ENST00000368300.8:c.1968+5G>A	ENSP00000357283.4:n.1968+5G>A
ENST00000448611.6:c.1632+5G>A	ENSP00000395597.2:n.1632+5G>A
ENST00000473598.6:c.1671+5G>A	ENSP00000421821.1:n.1671+5G>A
ENST00000496738.5:n.2181+5G>A
ENST00000506981.1:n.552+5G>A
ENST00000508500.1:c.756+5G>A	ENSP00000424977.1:n.756+5G>A
NM_001257374.2:c.1632+5G>A	NP_001244303.1:n.1632+5G>A
NM_001282626.1:c.1818+155G>A	NP_001269555.1:n.1818+155G>A
NM_170707.3:c.1968+5G>A	NP_733821.1:n.1968+5G>A
NM_170708.3:c.1878+5G>A	NP_733822.1:n.1878+5G>A
XM_011509533.1:c.1632+5G>A	XP_011507835.1:n.1632+5G>A
XM_011509534.1:c.1344+5G>A	XP_011507836.1:n.1344+5G>A
XR_921781.1:n.2257+5G>A
XM_011509534.2:c.1344+5G>A	XP_011507836.1:n.1344+5G>A
XR_921781.2:n.2255+5G>A
NM_170707.4:c.1968+5G>A MANE Select	NP_733821.1:n.1968+5G>A
NM_001257374.3:c.1632+5G>A	NP_001244303.1:n.1632+5G>A
NM_001282626.2:c.1818+155G>A	NP_001269555.1:n.1818+155G>A
NM_170708.4:c.1878+5G>A	NP_733822.1:n.1878+5G>A