Canonical Allele Identifier: CA342827527

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108456T>C (hg19) ; chr1:g.156138665T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138665T>C , CM000663.2:g.156138665T>C	GRCh38
NC_000001.10:g.156108456T>C , CM000663.1:g.156108456T>C	GRCh37
NC_000001.9:g.154375080T>C	NCBI36
NG_008692.2:g.61093T>C , LRG_254:g.61093T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1318T>C	ENSP00000426535.3:p.Tyr440His
ENST00000682650.1:c.1786T>C	ENSP00000506904.1:p.Tyr596His
ENST00000683032.1:c.1876T>C	ENSP00000506771.1:p.Tyr626His
ENST00000683773.1:n.163+58T>C
ENST00000684195.1:c.*968T>C	ENSP00000508220.1:n.*968T>C
ENST00000361308.9:c.1876T>C	ENSP00000355292.6:p.Tyr626His
ENST00000368300.9:c.1876T>C MANE Select	ENSP00000357283.4:p.Tyr626His
ENST00000674518.1:c.*1226T>C	ENSP00000502261.1:n.*1226T>C
ENST00000674600.1:c.*1675T>C	ENSP00000501666.1:n.*1675T>C
ENST00000675455.1:c.*1676T>C	ENSP00000501795.1:n.*1676T>C
ENST00000675667.1:c.1876T>C	ENSP00000501803.1:p.Tyr626His
ENST00000675874.1:c.*1347T>C	ENSP00000501851.1:n.*1347T>C
ENST00000675881.1:c.*887T>C	ENSP00000501670.1:n.*887T>C
ENST00000675939.1:c.1876T>C	ENSP00000502256.1:p.Tyr626His
ENST00000675989.1:n.3479T>C
ENST00000676208.1:c.*979T>C	ENSP00000502468.1:n.*979T>C
ENST00000676385.2:c.1786T>C	ENSP00000502091.1:p.Tyr596His
ENST00000676434.1:c.*1631T>C	ENSP00000501648.1:n.*1631T>C
ENST00000347559.6:c.1786T>C	ENSP00000292304.3:p.Tyr596His
ENST00000368299.7:c.1818+58T>C	ENSP00000357282.3:n.1818+58T>C
ENST00000368300.8:c.1876T>C	ENSP00000357283.4:p.Tyr626His
ENST00000448611.6:c.1540T>C	ENSP00000395597.2:p.Tyr514His
ENST00000473598.6:c.1579T>C	ENSP00000421821.1:p.Tyr527His
ENST00000496738.5:n.2089T>C
ENST00000506981.1:n.460T>C
ENST00000508500.1:c.664T>C	ENSP00000424977.1:p.Tyr222His
NM_001257374.2:c.1540T>C	NP_001244303.1:p.Tyr514His
NM_001282626.1:c.1818+58T>C	NP_001269555.1:n.1818+58T>C
NM_170707.3:c.1876T>C	NP_733821.1:p.Tyr626His
NM_170708.3:c.1786T>C	NP_733822.1:p.Tyr596His
XM_011509533.1:c.1540T>C	XP_011507835.1:p.Tyr514His
XM_011509534.1:c.1252T>C	XP_011507836.1:p.Tyr418His
XR_921781.1:n.2165T>C
XM_011509534.2:c.1252T>C	XP_011507836.1:p.Tyr418His
XR_921781.2:n.2163T>C
NM_170707.4:c.1876T>C MANE Select	NP_733821.1:p.Tyr626His
NM_001257374.3:c.1540T>C	NP_001244303.1:p.Tyr514His
NM_001282626.2:c.1818+58T>C	NP_001269555.1:n.1818+58T>C
NM_170708.4:c.1786T>C	NP_733822.1:p.Tyr596His