Canonical Allele Identifier: CA015337

Gene: LMNA

Linked Data

• ClinVar Variation Id: 48055
• ClinVar RCV Id: RCV000041337 ; RCV000473263 ; RCV000619457 ; RCV001170983 ; RCV001173400 ; RCV001529866 ; RCV003996461
• dbSNP Id: rs117939448
• ExAC: 1:156108491 C / T
• gnomAD v2: 1-156108491-C-T
• gnomAD v3: 1-156138700-C-T
• gnomAD v4: 1-156138700-C-T
• MyVariant Identifiers: chr1:g.156108491C>T (hg19) ; chr1:g.156138700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138700C>T , CM000663.2:g.156138700C>T	GRCh38
NC_000001.10:g.156108491C>T , CM000663.1:g.156108491C>T	GRCh37
NC_000001.9:g.154375115C>T	NCBI36
NG_008692.2:g.61128C>T , LRG_254:g.61128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1353C>T	ENSP00000426535.3:p.Phe451=
ENST00000682650.1:c.1821C>T	ENSP00000506904.1:p.Phe607=
ENST00000683032.1:c.1911C>T	ENSP00000506771.1:p.Phe637=
ENST00000683773.1:n.163+93C>T
ENST00000684195.1:c.*1003C>T	ENSP00000508220.1:n.*1003C>T
ENST00000361308.9:c.1911C>T	ENSP00000355292.6:p.Phe637=
ENST00000368300.9:c.1911C>T MANE Select	ENSP00000357283.4:p.Phe637=
ENST00000674518.1:c.*1261C>T	ENSP00000502261.1:n.*1261C>T
ENST00000674600.1:c.*1710C>T	ENSP00000501666.1:n.*1710C>T
ENST00000675455.1:c.*1711C>T	ENSP00000501795.1:n.*1711C>T
ENST00000675667.1:c.1911C>T	ENSP00000501803.1:p.Phe637=
ENST00000675874.1:c.*1382C>T	ENSP00000501851.1:n.*1382C>T
ENST00000675881.1:c.*922C>T	ENSP00000501670.1:n.*922C>T
ENST00000675939.1:c.1911C>T	ENSP00000502256.1:p.Phe637=
ENST00000675989.1:n.3514C>T
ENST00000676208.1:c.*1014C>T	ENSP00000502468.1:n.*1014C>T
ENST00000676385.2:c.1821C>T	ENSP00000502091.1:p.Phe607=
ENST00000676434.1:c.*1666C>T	ENSP00000501648.1:n.*1666C>T
ENST00000347559.6:c.1821C>T	ENSP00000292304.3:p.Phe607=
ENST00000368299.7:c.1818+93C>T	ENSP00000357282.3:n.1818+93C>T
ENST00000368300.8:c.1911C>T	ENSP00000357283.4:p.Phe637=
ENST00000448611.6:c.1575C>T	ENSP00000395597.2:p.Phe525=
ENST00000473598.6:c.1614C>T	ENSP00000421821.1:p.Phe538=
ENST00000496738.5:n.2124C>T
ENST00000506981.1:n.495C>T
ENST00000508500.1:c.699C>T	ENSP00000424977.1:p.Phe233=
NM_001257374.2:c.1575C>T	NP_001244303.1:p.Phe525=
NM_001282626.1:c.1818+93C>T	NP_001269555.1:n.1818+93C>T
NM_170707.3:c.1911C>T	NP_733821.1:p.Phe637=
NM_170708.3:c.1821C>T	NP_733822.1:p.Phe607=
XM_011509533.1:c.1575C>T	XP_011507835.1:p.Phe525=
XM_011509534.1:c.1287C>T	XP_011507836.1:p.Phe429=
XR_921781.1:n.2200C>T
XM_011509534.2:c.1287C>T	XP_011507836.1:p.Phe429=
XR_921781.2:n.2198C>T
NM_170707.4:c.1911C>T MANE Select	NP_733821.1:p.Phe637=
NM_001257374.3:c.1575C>T	NP_001244303.1:p.Phe525=
NM_001282626.2:c.1818+93C>T	NP_001269555.1:n.1818+93C>T
NM_170708.4:c.1821C>T	NP_733822.1:p.Phe607=