Canonical Allele Identifier: CA4056498

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152344178T>C , CM000668.2:g.152344178T>C	GRCh38
NC_000006.11:g.152665313T>C , CM000668.1:g.152665313T>C	GRCh37
NC_000006.10:g.152707006T>C	NCBI36
NG_012855.1:g.298222A>G
NG_012855.2:g.298222A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.12128A>G MANE Select	NP_892006.3:p.Asp4043Gly
ENST00000367255.10:c.12128A>G MANE Select	ENSP00000356224.5:p.Asp4043Gly
NM_033071.3:c.11915A>G	NP_149062.1:p.Asp3972Gly
NM_033071.5:c.11915A>G	NP_149062.2:p.Asp3972Gly
NM_182961.3:c.12128A>G	NP_892006.3:p.Asp4043Gly
ENST00000341594.9:c.11672A>G	ENSP00000341887.6:p.Asp3891Gly
ENST00000367255.9:c.12128A>G	ENSP00000356224.5:p.Asp4043Gly
ENST00000423061.5:c.11915A>G	ENSP00000396024.1:p.Asp3972Gly
ENST00000423061.6:c.11915A>G	ENSP00000396024.1:p.Asp3972Gly
ENST00000471834.1:n.5266A>G
XM_006715407.1:c.12149A>G	XP_006715470.1:p.Asp4050Gly
XM_006715408.1:c.12149A>G	XP_006715471.1:p.Asp4050Gly
XM_006715408.2:c.12149A>G	XP_006715471.1:p.Asp4050Gly
XM_006715409.1:c.12128A>G	XP_006715472.1:p.Asp4043Gly
XM_006715410.1:c.12149A>G	XP_006715473.1:p.Asp4050Gly
XM_006715410.2:c.12149A>G	XP_006715473.1:p.Asp4050Gly
XM_006715411.1:c.12098A>G	XP_006715474.1:p.Asp4033Gly
XM_006715412.1:c.12149A>G	XP_006715475.1:p.Asp4050Gly
XM_006715412.2:c.12149A>G	XP_006715475.1:p.Asp4050Gly
XM_006715413.1:c.12149A>G	XP_006715476.1:p.Asp4050Gly
XM_006715413.2:c.12149A>G	XP_006715476.1:p.Asp4050Gly
XM_006715414.1:c.12077A>G	XP_006715477.1:p.Asp4026Gly
XM_006715415.1:c.12149A>G	XP_006715478.1:p.Asp4050Gly
XM_006715415.2:c.12149A>G	XP_006715478.1:p.Asp4050Gly
XM_006715416.1:c.12149A>G	XP_006715479.1:p.Asp4050Gly
XM_006715416.2:c.12149A>G	XP_006715479.1:p.Asp4050Gly
XM_006715417.1:c.12149A>G	XP_006715480.1:p.Asp4050Gly
XM_006715417.2:c.12149A>G	XP_006715480.1:p.Asp4050Gly
XM_006715420.1:c.12149A>G	XP_006715483.1:p.Asp4050Gly
XM_006715420.2:c.12149A>G	XP_006715483.1:p.Asp4050Gly
XM_006715421.1:c.11993A>G	XP_006715484.1:p.Asp3998Gly
XM_006715421.2:c.11993A>G	XP_006715484.1:p.Asp3998Gly
XM_006715422.1:c.11990A>G	XP_006715485.1:p.Asp3997Gly
XM_006715423.1:c.12149A>G	XP_006715486.1:p.Asp4050Gly
XM_006715423.2:c.12149A>G	XP_006715486.1:p.Asp4050Gly
XM_006715424.1:c.12149A>G	XP_006715487.1:p.Asp4050Gly
XM_006715424.2:c.12149A>G	XP_006715487.1:p.Asp4050Gly
XM_006715425.1:c.12149A>G	XP_006715488.1:p.Asp4050Gly
XM_006715425.2:c.12149A>G	XP_006715488.1:p.Asp4050Gly
XM_011535641.1:c.12149A>G	XP_011533943.1:p.Asp4050Gly
XM_011535641.2:c.12149A>G	XP_011533943.1:p.Asp4050Gly
XM_011535642.1:c.12149A>G	XP_011533944.1:p.Asp4050Gly
XM_011535642.2:c.12149A>G	XP_011533944.1:p.Asp4050Gly
XM_011535643.1:c.11984A>G	XP_011533945.1:p.Asp3995Gly
XM_011535644.1:c.10424A>G	XP_011533946.1:p.Asp3475Gly
XM_011535645.1:c.9917A>G	XP_011533947.1:p.Asp3306Gly
XM_011535645.2:c.9917A>G	XP_011533947.1:p.Asp3306Gly
XM_011535646.1:c.12149A>G	XP_011533948.1:p.Asp4050Gly
XM_011535647.1:c.5384A>G	XP_011533949.1:p.Asp1795Gly
XM_017010608.1:c.12149A>G	XP_016866097.1:p.Asp4050Gly
XM_017010609.1:c.12149A>G	XP_016866098.1:p.Asp4050Gly
XM_017010610.1:c.12128A>G	XP_016866099.1:p.Asp4043Gly
XM_017010611.2:c.12122A>G	XP_016866100.1:p.Asp4041Gly
XM_017010612.1:c.12071A>G	XP_016866101.1:p.Asp4024Gly
XM_017010613.1:c.12149A>G	XP_016866102.1:p.Asp4050Gly
XM_017010614.1:c.12149A>G	XP_016866103.1:p.Asp4050Gly
XM_017010615.1:c.12149A>G	XP_016866104.1:p.Asp4050Gly
XM_017010616.1:c.12149A>G	XP_016866105.1:p.Asp4050Gly
XM_017010617.1:c.12149A>G	XP_016866106.1:p.Asp4050Gly
XM_017010618.1:c.12149A>G	XP_016866107.1:p.Asp4050Gly
XM_017010619.1:c.10424A>G	XP_016866108.1:p.Asp3475Gly
XR_001743287.1:n.12632A>G