Canonical Allele Identifier: CA051906

Gene: LMNA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156139076T>C , CM000663.2:g.156139076T>C	GRCh38
NC_000001.10:g.156108867T>C , CM000663.1:g.156108867T>C	GRCh37
NC_000001.9:g.154375491T>C	NCBI36
NG_008692.2:g.61504T>C , LRG_254:g.61504T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_170707.4:c.1969-4T>C MANE Select	NP_733821.1:n.1969-4T>C
ENST00000368300.9:c.1969-4T>C MANE Select	ENSP00000357283.4:n.1969-4T>C
NM_001257374.2:c.1633-4T>C	NP_001244303.1:n.1633-4T>C
NM_001257374.3:c.1633-4T>C	NP_001244303.1:n.1633-4T>C
NM_001282626.1:c.1819-4T>C	NP_001269555.1:n.1819-4T>C
NM_001282626.2:c.1819-4T>C	NP_001269555.1:n.1819-4T>C
NM_170707.3:c.1969-4T>C	NP_733821.1:n.1969-4T>C
NM_170708.3:c.1879-4T>C	NP_733822.1:n.1879-4T>C
NM_170708.4:c.1879-4T>C	NP_733822.1:n.1879-4T>C
ENST00000347559.6:c.1879-4T>C	ENSP00000292304.3:n.1879-4T>C
ENST00000361308.9:c.1969-4T>C	ENSP00000355292.6:n.1969-4T>C
ENST00000368299.7:c.1819-4T>C	ENSP00000357282.3:n.1819-4T>C
ENST00000368300.8:c.1969-4T>C	ENSP00000357283.4:n.1969-4T>C
ENST00000448611.6:c.1633-4T>C	ENSP00000395597.2:n.1633-4T>C
ENST00000473598.6:c.1672-4T>C	ENSP00000421821.1:n.1672-4T>C
ENST00000496738.5:n.2182-4T>C
ENST00000504687.7:c.1411-4T>C	ENSP00000426535.3:n.1411-4T>C
ENST00000506981.1:n.553-4T>C
ENST00000508500.1:c.757-4T>C	ENSP00000424977.1:n.757-4T>C
ENST00000674518.1:c.*1319-4T>C	ENSP00000502261.1:n.*1319-4T>C
ENST00000674600.1:c.*1768-4T>C	ENSP00000501666.1:n.*1768-4T>C
ENST00000675455.1:c.*1769-4T>C	ENSP00000501795.1:n.*1769-4T>C
ENST00000675667.1:c.*97T>C	ENSP00000501803.1:n.*97T>C
ENST00000675874.1:c.*1440-4T>C	ENSP00000501851.1:n.*1440-4T>C
ENST00000675881.1:c.*980-4T>C	ENSP00000501670.1:n.*980-4T>C
ENST00000675939.1:c.1969-4T>C	ENSP00000502256.1:n.1969-4T>C
ENST00000675989.1:n.3572-4T>C
ENST00000676208.1:c.*1072-4T>C	ENSP00000502468.1:n.*1072-4T>C
ENST00000676385.2:c.1879-4T>C	ENSP00000502091.1:n.1879-4T>C
ENST00000682650.1:c.1879-4T>C	ENSP00000506904.1:n.1879-4T>C
ENST00000683032.1:c.1969-4T>C	ENSP00000506771.1:n.1969-4T>C
ENST00000683773.1:n.163+469T>C
ENST00000684195.1:c.*1061-4T>C	ENSP00000508220.1:n.*1061-4T>C
XM_011509533.1:c.1633-4T>C	XP_011507835.1:n.1633-4T>C
XM_011509534.1:c.1345-4T>C	XP_011507836.1:n.1345-4T>C
XM_011509534.2:c.1345-4T>C	XP_011507836.1:n.1345-4T>C
XR_921781.1:n.2258-4T>C
XR_921781.2:n.2256-4T>C