Canonical Allele Identifier: CA342827743

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108478G>C (hg19) ; chr1:g.156138687G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138687G>C , CM000663.2:g.156138687G>C	GRCh38
NC_000001.10:g.156108478G>C , CM000663.1:g.156108478G>C	GRCh37
NC_000001.9:g.154375102G>C	NCBI36
NG_008692.2:g.61115G>C , LRG_254:g.61115G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1340G>C	ENSP00000426535.3:p.Gly447Ala
ENST00000682650.1:c.1808G>C	ENSP00000506904.1:p.Gly603Ala
ENST00000683032.1:c.1898G>C	ENSP00000506771.1:p.Gly633Ala
ENST00000683773.1:n.163+80G>C
ENST00000684195.1:c.*990G>C	ENSP00000508220.1:n.*990G>C
ENST00000361308.9:c.1898G>C	ENSP00000355292.6:p.Gly633Ala
ENST00000368300.9:c.1898G>C MANE Select	ENSP00000357283.4:p.Gly633Ala
ENST00000674518.1:c.*1248G>C	ENSP00000502261.1:n.*1248G>C
ENST00000674600.1:c.*1697G>C	ENSP00000501666.1:n.*1697G>C
ENST00000675455.1:c.*1698G>C	ENSP00000501795.1:n.*1698G>C
ENST00000675667.1:c.1898G>C	ENSP00000501803.1:p.Gly633Ala
ENST00000675874.1:c.*1369G>C	ENSP00000501851.1:n.*1369G>C
ENST00000675881.1:c.*909G>C	ENSP00000501670.1:n.*909G>C
ENST00000675939.1:c.1898G>C	ENSP00000502256.1:p.Gly633Ala
ENST00000675989.1:n.3501G>C
ENST00000676208.1:c.*1001G>C	ENSP00000502468.1:n.*1001G>C
ENST00000676385.2:c.1808G>C	ENSP00000502091.1:p.Gly603Ala
ENST00000676434.1:c.*1653G>C	ENSP00000501648.1:n.*1653G>C
ENST00000347559.6:c.1808G>C	ENSP00000292304.3:p.Gly603Ala
ENST00000368299.7:c.1818+80G>C	ENSP00000357282.3:n.1818+80G>C
ENST00000368300.8:c.1898G>C	ENSP00000357283.4:p.Gly633Ala
ENST00000448611.6:c.1562G>C	ENSP00000395597.2:p.Gly521Ala
ENST00000473598.6:c.1601G>C	ENSP00000421821.1:p.Gly534Ala
ENST00000496738.5:n.2111G>C
ENST00000506981.1:n.482G>C
ENST00000508500.1:c.686G>C	ENSP00000424977.1:p.Gly229Ala
NM_001257374.2:c.1562G>C	NP_001244303.1:p.Gly521Ala
NM_001282626.1:c.1818+80G>C	NP_001269555.1:n.1818+80G>C
NM_170707.3:c.1898G>C	NP_733821.1:p.Gly633Ala
NM_170708.3:c.1808G>C	NP_733822.1:p.Gly603Ala
XM_011509533.1:c.1562G>C	XP_011507835.1:p.Gly521Ala
XM_011509534.1:c.1274G>C	XP_011507836.1:p.Gly425Ala
XR_921781.1:n.2187G>C
XM_011509534.2:c.1274G>C	XP_011507836.1:p.Gly425Ala
XR_921781.2:n.2185G>C
NM_170707.4:c.1898G>C MANE Select	NP_733821.1:p.Gly633Ala
NM_001257374.3:c.1562G>C	NP_001244303.1:p.Gly521Ala
NM_001282626.2:c.1818+80G>C	NP_001269555.1:n.1818+80G>C
NM_170708.4:c.1808G>C	NP_733822.1:p.Gly603Ala