Canonical Allele Identifier: CA342826435

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108310C>T (hg19) ; chr1:g.156138519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138519C>T , CM000663.2:g.156138519C>T	GRCh38
NC_000001.10:g.156108310C>T , CM000663.1:g.156108310C>T	GRCh37
NC_000001.9:g.154374934C>T	NCBI36
NG_008692.2:g.60947C>T , LRG_254:g.60947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1172C>T	ENSP00000426535.3:p.Ala391Val
ENST00000682650.1:c.1640C>T	ENSP00000506904.1:p.Ala547Val
ENST00000683032.1:c.1730C>T	ENSP00000506771.1:p.Ala577Val
ENST00000683773.1:n.75C>T
ENST00000684195.1:c.*822C>T	ENSP00000508220.1:n.*822C>T
ENST00000361308.9:c.1730C>T	ENSP00000355292.6:p.Ala577Val
ENST00000368300.9:c.1730C>T MANE Select	ENSP00000357283.4:p.Ala577Val
ENST00000496738.6:n.2933C>T
ENST00000674518.1:c.*1080C>T	ENSP00000502261.1:n.*1080C>T
ENST00000674600.1:c.*1529C>T	ENSP00000501666.1:n.*1529C>T
ENST00000674720.1:c.*1036C>T	ENSP00000502798.1:n.*1036C>T
ENST00000675455.1:c.*1530C>T	ENSP00000501795.1:n.*1530C>T
ENST00000675667.1:c.1730C>T	ENSP00000501803.1:p.Ala577Val
ENST00000675874.1:c.*1201C>T	ENSP00000501851.1:n.*1201C>T
ENST00000675881.1:c.*741C>T	ENSP00000501670.1:n.*741C>T
ENST00000675939.1:c.1730C>T	ENSP00000502256.1:p.Ala577Val
ENST00000675989.1:n.3333C>T
ENST00000676208.1:c.*833C>T	ENSP00000502468.1:n.*833C>T
ENST00000676283.1:n.3270C>T
ENST00000676385.2:c.1640C>T	ENSP00000502091.1:p.Ala547Val
ENST00000676434.1:c.*1485C>T	ENSP00000501648.1:n.*1485C>T
ENST00000347559.6:c.1640C>T	ENSP00000292304.3:p.Ala547Val
ENST00000368299.7:c.1730C>T	ENSP00000357282.3:p.Ala577Val
ENST00000368300.8:c.1730C>T	ENSP00000357283.4:p.Ala577Val
ENST00000448611.6:c.1394C>T	ENSP00000395597.2:p.Ala465Val
ENST00000473598.6:c.1433C>T	ENSP00000421821.1:p.Ala478Val
ENST00000496738.5:n.1943C>T
ENST00000506981.1:n.314C>T
ENST00000508500.1:c.518C>T	ENSP00000424977.1:p.Ala173Val
NM_001257374.2:c.1394C>T	NP_001244303.1:p.Ala465Val
NM_001282626.1:c.1730C>T	NP_001269555.1:p.Ala577Val
NM_170707.3:c.1730C>T	NP_733821.1:p.Ala577Val
NM_170708.3:c.1640C>T	NP_733822.1:p.Ala547Val
XM_011509533.1:c.1394C>T	XP_011507835.1:p.Ala465Val
XM_011509534.1:c.1106C>T	XP_011507836.1:p.Ala369Val
XR_921781.1:n.2019C>T
XM_011509534.2:c.1106C>T	XP_011507836.1:p.Ala369Val
XR_921781.2:n.2017C>T
NM_170707.4:c.1730C>T MANE Select	NP_733821.1:p.Ala577Val
NM_001257374.3:c.1394C>T	NP_001244303.1:p.Ala465Val
NM_001282626.2:c.1730C>T	NP_001269555.1:p.Ala577Val
NM_170708.4:c.1640C>T	NP_733822.1:p.Ala547Val