Canonical Allele Identifier: CA342817048

Gene: LMNA

Linked Data

• ClinVar Variation Id: 2433467
• ClinVar RCV Id: RCV003142613 ; RCV003581891
• MyVariant Identifiers: chr1:g.156104297T>C (hg19) ; chr1:g.156134506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134506T>C , CM000663.2:g.156134506T>C	GRCh38
NC_000001.10:g.156104297T>C , CM000663.1:g.156104297T>C	GRCh37
NC_000001.9:g.154370921T>C	NCBI36
NG_008692.2:g.56934T>C , LRG_254:g.56934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.59T>C	ENSP00000426535.3:p.Phe20Ser
ENST00000682650.1:c.617T>C	ENSP00000506904.1:p.Phe206Ser
ENST00000683032.1:c.617T>C	ENSP00000506771.1:p.Phe206Ser
ENST00000684195.1:c.617T>C	ENSP00000508220.1:p.Phe206Ser
ENST00000361308.9:c.617T>C	ENSP00000355292.6:p.Phe206Ser
ENST00000368300.9:c.617T>C MANE Select	ENSP00000357283.4:p.Phe206Ser
ENST00000496738.6:n.992T>C
ENST00000504687.6:c.-48T>C	ENSP00000426535.2:n.-48T>C
ENST00000674518.1:c.617T>C	ENSP00000502261.1:p.Phe206Ser
ENST00000674600.1:c.*416T>C	ENSP00000501666.1:n.*416T>C
ENST00000674720.1:c.617T>C	ENSP00000502798.1:p.Phe206Ser
ENST00000675431.1:n.310T>C
ENST00000675455.1:c.*417T>C	ENSP00000501795.1:n.*417T>C
ENST00000675667.1:c.617T>C	ENSP00000501803.1:p.Phe206Ser
ENST00000675874.1:c.*88T>C	ENSP00000501851.1:n.*88T>C
ENST00000675881.1:c.617T>C	ENSP00000501670.1:p.Phe206Ser
ENST00000675939.1:c.617T>C	ENSP00000502256.1:p.Phe206Ser
ENST00000675989.1:n.992T>C
ENST00000676208.1:c.617T>C	ENSP00000502468.1:p.Phe206Ser
ENST00000676283.1:n.992T>C
ENST00000676385.2:c.617T>C	ENSP00000502091.1:p.Phe206Ser
ENST00000676434.1:c.617T>C	ENSP00000501648.1:p.Phe206Ser
ENST00000677389.1:c.617T>C MANE Plus Clinical	ENSP00000503633.1:p.Phe206Ser
ENST00000347559.6:c.617T>C	ENSP00000292304.3:p.Phe206Ser
ENST00000361308.8:c.617T>C	ENSP00000355292.5:p.Phe206Ser
ENST00000368297.5:c.374T>C	ENSP00000357280.1:p.Phe125Ser
ENST00000368299.7:c.617T>C	ENSP00000357282.3:p.Phe206Ser
ENST00000368300.8:c.617T>C	ENSP00000357283.4:p.Phe206Ser
ENST00000368301.6:c.617T>C	ENSP00000357284.2:p.Phe206Ser
ENST00000448611.6:c.281T>C	ENSP00000395597.2:p.Phe94Ser
ENST00000473598.6:c.320T>C	ENSP00000421821.1:p.Phe107Ser
ENST00000502357.5:n.515T>C
ENST00000504687.5:c.368T>C	ENSP00000426535.1:p.Phe123Ser
ENST00000515459.5:c.*291T>C	ENSP00000424518.1:n.*291T>C
NM_001257374.2:c.281T>C	NP_001244303.1:p.Phe94Ser
NM_001282624.1:c.374T>C	NP_001269553.1:p.Phe125Ser
NM_001282625.1:c.617T>C	NP_001269554.1:p.Phe206Ser
NM_001282626.1:c.617T>C	NP_001269555.1:p.Phe206Ser
NM_005572.3:c.617T>C , LRG_254t1:c.617T>C	NP_005563.1:p.Phe206Ser
NM_170707.3:c.617T>C	NP_733821.1:p.Phe206Ser
NM_170708.3:c.617T>C	NP_733822.1:p.Phe206Ser
XM_011509533.1:c.281T>C	XP_011507835.1:p.Phe94Ser
XM_011509534.1:c.-48T>C	XP_011507836.1:n.-48T>C
XR_921781.1:n.866T>C
XM_011509534.2:c.-48T>C	XP_011507836.1:n.-48T>C
XR_921781.2:n.864T>C
NM_170707.4:c.617T>C MANE Select	NP_733821.1:p.Phe206Ser
NM_001257374.3:c.281T>C	NP_001244303.1:p.Phe94Ser
NM_001282626.2:c.617T>C	NP_001269555.1:p.Phe206Ser
NM_001282624.2:c.374T>C	NP_001269553.1:p.Phe125Ser
NM_001282625.2:c.617T>C	NP_001269554.1:p.Phe206Ser
NM_005572.4:c.617T>C MANE Plus Clinical	NP_005563.1:p.Phe206Ser
NM_170708.4:c.617T>C	NP_733822.1:p.Phe206Ser