Canonical Allele Identifier: CA366099439

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534853T>A (hg19) ; chr6:g.152213718T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213718T>A , CM000668.2:g.152213718T>A	GRCh38
NC_000006.11:g.152534853T>A , CM000668.1:g.152534853T>A	GRCh37
NC_000006.10:g.152576546T>A	NCBI36
NG_012855.1:g.428682A>T
NG_012855.2:g.428682A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22388A>T MANE Select	ENSP00000356224.5:p.Glu7463Val
ENST00000423061.6:c.22175A>T	ENSP00000396024.1:p.Glu7392Val
ENST00000341594.9:c.21173A>T	ENSP00000341887.6:p.Glu7058Val
ENST00000367251.7:c.1154A>T	ENSP00000356220.3:p.Glu385Val
ENST00000367255.9:c.22388A>T	ENSP00000356224.5:p.Glu7463Val
ENST00000367256.9:n.6080A>T
ENST00000367257.8:c.326A>T	ENSP00000356226.4:p.Glu109Val
ENST00000409694.6:n.5972A>T
ENST00000423061.5:c.22175A>T	ENSP00000396024.1:p.Glu7392Val
NM_033071.3:c.22175A>T	NP_149062.1:p.Glu7392Val
NM_182961.3:c.22388A>T	NP_892006.3:p.Glu7463Val
XM_006715407.1:c.22424A>T	XP_006715470.1:p.Glu7475Val
XM_006715408.1:c.22412A>T	XP_006715471.1:p.Glu7471Val
XM_006715409.1:c.22403A>T	XP_006715472.1:p.Glu7468Val
XM_006715410.1:c.22424A>T	XP_006715473.1:p.Glu7475Val
XM_006715411.1:c.22373A>T	XP_006715474.1:p.Glu7458Val
XM_006715412.1:c.22409A>T	XP_006715475.1:p.Glu7470Val
XM_006715413.1:c.22424A>T	XP_006715476.1:p.Glu7475Val
XM_006715414.1:c.22352A>T	XP_006715477.1:p.Glu7451Val
XM_006715415.1:c.22424A>T	XP_006715478.1:p.Glu7475Val
XM_006715416.1:c.22409A>T	XP_006715479.1:p.Glu7470Val
XM_006715417.1:c.22283A>T	XP_006715480.1:p.Glu7428Val
XM_006715420.1:c.22271A>T	XP_006715483.1:p.Glu7424Val
XM_006715421.1:c.22268A>T	XP_006715484.1:p.Glu7423Val
XM_006715422.1:c.22265A>T	XP_006715485.1:p.Glu7422Val
XM_006715423.1:c.22424A>T	XP_006715486.1:p.Glu7475Val
XM_006715424.1:c.22424A>T	XP_006715487.1:p.Glu7475Val
XM_006715425.1:c.22424A>T	XP_006715488.1:p.Glu7475Val
XM_011535641.1:c.22421A>T	XP_011533943.1:p.Glu7474Val
XM_011535642.1:c.22409A>T	XP_011533944.1:p.Glu7470Val
XM_011535643.1:c.22259A>T	XP_011533945.1:p.Glu7420Val
XM_011535644.1:c.20699A>T	XP_011533946.1:p.Glu6900Val
XM_011535645.1:c.20192A>T	XP_011533947.1:p.Glu6731Val
XM_011535647.1:c.15659A>T	XP_011533949.1:p.Glu5220Val
XM_006715408.2:c.22412A>T	XP_006715471.1:p.Glu7471Val
XM_006715410.2:c.22424A>T	XP_006715473.1:p.Glu7475Val
XM_006715412.2:c.22409A>T	XP_006715475.1:p.Glu7470Val
XM_006715413.2:c.22424A>T	XP_006715476.1:p.Glu7475Val
XM_006715415.2:c.22424A>T	XP_006715478.1:p.Glu7475Val
XM_006715416.2:c.22409A>T	XP_006715479.1:p.Glu7470Val
XM_006715417.2:c.22283A>T	XP_006715480.1:p.Glu7428Val
XM_006715420.2:c.22271A>T	XP_006715483.1:p.Glu7424Val
XM_006715421.2:c.22268A>T	XP_006715484.1:p.Glu7423Val
XM_006715423.2:c.22424A>T	XP_006715486.1:p.Glu7475Val
XM_006715424.2:c.22424A>T	XP_006715487.1:p.Glu7475Val
XM_006715425.2:c.22424A>T	XP_006715488.1:p.Glu7475Val
XM_011535641.2:c.22421A>T	XP_011533943.1:p.Glu7474Val
XM_011535642.2:c.22409A>T	XP_011533944.1:p.Glu7470Val
XM_011535645.2:c.20192A>T	XP_011533947.1:p.Glu6731Val
XM_017010608.1:c.22424A>T	XP_016866097.1:p.Glu7475Val
XM_017010609.1:c.22424A>T	XP_016866098.1:p.Glu7475Val
XM_017010610.1:c.22403A>T	XP_016866099.1:p.Glu7468Val
XM_017010611.2:c.22397A>T	XP_016866100.1:p.Glu7466Val
XM_017010612.1:c.22346A>T	XP_016866101.1:p.Glu7449Val
XM_017010613.1:c.22421A>T	XP_016866102.1:p.Glu7474Val
XM_017010614.1:c.22268A>T	XP_016866103.1:p.Glu7423Val
XM_017010615.1:c.22268A>T	XP_016866104.1:p.Glu7423Val
XM_017010616.1:c.22424A>T	XP_016866105.1:p.Glu7475Val
XM_017010617.1:c.22421A>T	XP_016866106.1:p.Glu7474Val
XM_017010618.1:c.22409A>T	XP_016866107.1:p.Glu7470Val
XM_017010619.1:c.20699A>T	XP_016866108.1:p.Glu6900Val
NM_182961.4:c.22388A>T MANE Select	NP_892006.3:p.Glu7463Val
NM_033071.5:c.22175A>T	NP_149062.2:p.Glu7392Val