Canonical Allele Identifier: CA347066
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 162415
ClinVar RCV Id: RCV000192018
dbSNP Id: rs113860699
MyVariant Identifiers: chr1:g.156108550T>C (hg19) chr1:g.156138759T>C (hg38)
PubMed: PMID:20301300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156138759T>C , CM000663.2:g.156138759T>C GRCh38
NC_000001.10:g.156108550T>C , CM000663.1:g.156108550T>C GRCh37
NC_000001.9:g.154375174T>C NCBI36
NG_008692.2:g.61187T>C , LRG_254:g.61187T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000504687.7:c.1410+2T>C ENSP00000426535.3:n.1410+2T>C
ENST00000682650.1:c.1878+2T>C ENSP00000506904.1:n.1878+2T>C
ENST00000683032.1:c.1968+2T>C ENSP00000506771.1:n.1968+2T>C
ENST00000683773.1:n.163+152T>C
ENST00000684195.1:c.*1060+2T>C ENSP00000508220.1:n.*1060+2T>C
ENST00000361308.9:c.1968+2T>C ENSP00000355292.6:n.1968+2T>C
ENST00000368300.9:c.1968+2T>C MANE Select ENSP00000357283.4:n.1968+2T>C
ENST00000674518.1:c.*1318+2T>C ENSP00000502261.1:n.*1318+2T>C
ENST00000674600.1:c.*1767+2T>C ENSP00000501666.1:n.*1767+2T>C
ENST00000675455.1:c.*1768+2T>C ENSP00000501795.1:n.*1768+2T>C
ENST00000675667.1:c.1970T>C ENSP00000501803.1:p.Val657Ala
ENST00000675874.1:c.*1439+2T>C ENSP00000501851.1:n.*1439+2T>C
ENST00000675881.1:c.*979+2T>C ENSP00000501670.1:n.*979+2T>C
ENST00000675939.1:c.1968+2T>C ENSP00000502256.1:n.1968+2T>C
ENST00000675989.1:n.3571+2T>C
ENST00000676208.1:c.*1071+2T>C ENSP00000502468.1:n.*1071+2T>C
ENST00000676385.2:c.1878+2T>C ENSP00000502091.1:n.1878+2T>C
ENST00000676434.1:c.*1725T>C ENSP00000501648.1:n.*1725T>C
ENST00000347559.6:c.1878+2T>C ENSP00000292304.3:n.1878+2T>C
ENST00000368299.7:c.1818+152T>C ENSP00000357282.3:n.1818+152T>C
ENST00000368300.8:c.1968+2T>C ENSP00000357283.4:n.1968+2T>C
ENST00000448611.6:c.1632+2T>C ENSP00000395597.2:n.1632+2T>C
ENST00000473598.6:c.1671+2T>C ENSP00000421821.1:n.1671+2T>C
ENST00000496738.5:n.2181+2T>C
ENST00000506981.1:n.552+2T>C
ENST00000508500.1:c.756+2T>C ENSP00000424977.1:n.756+2T>C
NM_001257374.2:c.1632+2T>C NP_001244303.1:n.1632+2T>C
NM_001282626.1:c.1818+152T>C NP_001269555.1:n.1818+152T>C
NM_170707.3:c.1968+2T>C NP_733821.1:n.1968+2T>C
NM_170708.3:c.1878+2T>C NP_733822.1:n.1878+2T>C
XM_011509533.1:c.1632+2T>C XP_011507835.1:n.1632+2T>C
XM_011509534.1:c.1344+2T>C XP_011507836.1:n.1344+2T>C
XR_921781.1:n.2257+2T>C
XM_011509534.2:c.1344+2T>C XP_011507836.1:n.1344+2T>C
XR_921781.2:n.2255+2T>C
NM_170707.4:c.1968+2T>C MANE Select NP_733821.1:n.1968+2T>C
NM_001257374.3:c.1632+2T>C NP_001244303.1:n.1632+2T>C
NM_001282626.2:c.1818+152T>C NP_001269555.1:n.1818+152T>C
NM_170708.4:c.1878+2T>C NP_733822.1:n.1878+2T>C
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