Canonical Allele Identifier: CA342826296

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108291A>C (hg19) ; chr1:g.156138500A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138500A>C , CM000663.2:g.156138500A>C	GRCh38
NC_000001.10:g.156108291A>C , CM000663.1:g.156108291A>C	GRCh37
NC_000001.9:g.154374915A>C	NCBI36
NG_008692.2:g.60928A>C , LRG_254:g.60928A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1153A>C	ENSP00000426535.3:p.Ser385Arg
ENST00000682650.1:c.1621A>C	ENSP00000506904.1:p.Ser541Arg
ENST00000683032.1:c.1711A>C	ENSP00000506771.1:p.Ser571Arg
ENST00000683773.1:n.56A>C
ENST00000684195.1:c.*803A>C	ENSP00000508220.1:n.*803A>C
ENST00000361308.9:c.1711A>C	ENSP00000355292.6:p.Ser571Arg
ENST00000368300.9:c.1711A>C MANE Select	ENSP00000357283.4:p.Ser571Arg
ENST00000496738.6:n.2914A>C
ENST00000674518.1:c.*1061A>C	ENSP00000502261.1:n.*1061A>C
ENST00000674600.1:c.*1510A>C	ENSP00000501666.1:n.*1510A>C
ENST00000674720.1:c.*1017A>C	ENSP00000502798.1:n.*1017A>C
ENST00000675455.1:c.*1511A>C	ENSP00000501795.1:n.*1511A>C
ENST00000675667.1:c.1711A>C	ENSP00000501803.1:p.Ser571Arg
ENST00000675874.1:c.*1182A>C	ENSP00000501851.1:n.*1182A>C
ENST00000675881.1:c.*722A>C	ENSP00000501670.1:n.*722A>C
ENST00000675939.1:c.1711A>C	ENSP00000502256.1:p.Ser571Arg
ENST00000675989.1:n.3314A>C
ENST00000676208.1:c.*814A>C	ENSP00000502468.1:n.*814A>C
ENST00000676283.1:n.3251A>C
ENST00000676385.2:c.1621A>C	ENSP00000502091.1:p.Ser541Arg
ENST00000676434.1:c.*1466A>C	ENSP00000501648.1:n.*1466A>C
ENST00000347559.6:c.1621A>C	ENSP00000292304.3:p.Ser541Arg
ENST00000368299.7:c.1711A>C	ENSP00000357282.3:p.Ser571Arg
ENST00000368300.8:c.1711A>C	ENSP00000357283.4:p.Ser571Arg
ENST00000448611.6:c.1375A>C	ENSP00000395597.2:p.Ser459Arg
ENST00000473598.6:c.1414A>C	ENSP00000421821.1:p.Ser472Arg
ENST00000496738.5:n.1924A>C
ENST00000506981.1:n.295A>C
ENST00000508500.1:c.499A>C	ENSP00000424977.1:p.Ser167Arg
NM_001257374.2:c.1375A>C	NP_001244303.1:p.Ser459Arg
NM_001282626.1:c.1711A>C	NP_001269555.1:p.Ser571Arg
NM_170707.3:c.1711A>C	NP_733821.1:p.Ser571Arg
NM_170708.3:c.1621A>C	NP_733822.1:p.Ser541Arg
XM_011509533.1:c.1375A>C	XP_011507835.1:p.Ser459Arg
XM_011509534.1:c.1087A>C	XP_011507836.1:p.Ser363Arg
XR_921781.1:n.2000A>C
XM_011509534.2:c.1087A>C	XP_011507836.1:p.Ser363Arg
XR_921781.2:n.1998A>C
NM_170707.4:c.1711A>C MANE Select	NP_733821.1:p.Ser571Arg
NM_001257374.3:c.1375A>C	NP_001244303.1:p.Ser459Arg
NM_001282626.2:c.1711A>C	NP_001269555.1:p.Ser571Arg
NM_170708.4:c.1621A>C	NP_733822.1:p.Ser541Arg