Canonical Allele Identifier: CA2680818738

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213723-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213726dup , CM000668.2:g.152213726dup	GRCh38
NC_000006.11:g.152534861dup , CM000668.1:g.152534861dup	GRCh37
NC_000006.10:g.152576554dup	NCBI36
NG_012855.1:g.428676dup
NG_012855.2:g.428676dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22382dup MANE Select	ENSP00000356224.5:p.Glu7463GlyfsTer4
ENST00000423061.6:c.22169dup	ENSP00000396024.1:p.Glu7392GlyfsTer4
ENST00000341594.9:c.21167dup	ENSP00000341887.6:p.Glu7058GlyfsTer4
ENST00000367251.7:c.1148dup	ENSP00000356220.3:p.Glu385GlyfsTer4
ENST00000367255.9:c.22382dup	ENSP00000356224.5:p.Glu7463GlyfsTer4
ENST00000367256.9:n.6074dup
ENST00000367257.8:c.320dup	ENSP00000356226.4:p.Glu109GlyfsTer4
ENST00000409694.6:n.5966dup
ENST00000423061.5:c.22169dup	ENSP00000396024.1:p.Glu7392GlyfsTer4
NM_033071.3:c.22169dup	NP_149062.1:p.Glu7392GlyfsTer4
NM_182961.3:c.22382dup	NP_892006.3:p.Glu7463GlyfsTer4
XM_006715407.1:c.22418dup	XP_006715470.1:p.Glu7475GlyfsTer4
XM_006715408.1:c.22406dup	XP_006715471.1:p.Glu7471GlyfsTer4
XM_006715409.1:c.22397dup	XP_006715472.1:p.Glu7468GlyfsTer4
XM_006715410.1:c.22418dup	XP_006715473.1:p.Glu7475GlyfsTer4
XM_006715411.1:c.22367dup	XP_006715474.1:p.Glu7458GlyfsTer4
XM_006715412.1:c.22403dup	XP_006715475.1:p.Glu7470GlyfsTer4
XM_006715413.1:c.22418dup	XP_006715476.1:p.Glu7475GlyfsTer4
XM_006715414.1:c.22346dup	XP_006715477.1:p.Glu7451GlyfsTer4
XM_006715415.1:c.22418dup	XP_006715478.1:p.Glu7475GlyfsTer4
XM_006715416.1:c.22403dup	XP_006715479.1:p.Glu7470GlyfsTer4
XM_006715417.1:c.22277dup	XP_006715480.1:p.Glu7428GlyfsTer4
XM_006715420.1:c.22265dup	XP_006715483.1:p.Glu7424GlyfsTer4
XM_006715421.1:c.22262dup	XP_006715484.1:p.Glu7423GlyfsTer4
XM_006715422.1:c.22259dup	XP_006715485.1:p.Glu7422GlyfsTer4
XM_006715423.1:c.22418dup	XP_006715486.1:p.Glu7475GlyfsTer4
XM_006715424.1:c.22418dup	XP_006715487.1:p.Glu7475GlyfsTer4
XM_006715425.1:c.22418dup	XP_006715488.1:p.Glu7475GlyfsTer4
XM_011535641.1:c.22415dup	XP_011533943.1:p.Glu7474GlyfsTer4
XM_011535642.1:c.22403dup	XP_011533944.1:p.Glu7470GlyfsTer4
XM_011535643.1:c.22253dup	XP_011533945.1:p.Glu7420GlyfsTer4
XM_011535644.1:c.20693dup	XP_011533946.1:p.Glu6900GlyfsTer4
XM_011535645.1:c.20186dup	XP_011533947.1:p.Glu6731GlyfsTer4
XM_011535647.1:c.15653dup	XP_011533949.1:p.Glu5220GlyfsTer4
XM_006715408.2:c.22406dup	XP_006715471.1:p.Glu7471GlyfsTer4
XM_006715410.2:c.22418dup	XP_006715473.1:p.Glu7475GlyfsTer4
XM_006715412.2:c.22403dup	XP_006715475.1:p.Glu7470GlyfsTer4
XM_006715413.2:c.22418dup	XP_006715476.1:p.Glu7475GlyfsTer4
XM_006715415.2:c.22418dup	XP_006715478.1:p.Glu7475GlyfsTer4
XM_006715416.2:c.22403dup	XP_006715479.1:p.Glu7470GlyfsTer4
XM_006715417.2:c.22277dup	XP_006715480.1:p.Glu7428GlyfsTer4
XM_006715420.2:c.22265dup	XP_006715483.1:p.Glu7424GlyfsTer4
XM_006715421.2:c.22262dup	XP_006715484.1:p.Glu7423GlyfsTer4
XM_006715423.2:c.22418dup	XP_006715486.1:p.Glu7475GlyfsTer4
XM_006715424.2:c.22418dup	XP_006715487.1:p.Glu7475GlyfsTer4
XM_006715425.2:c.22418dup	XP_006715488.1:p.Glu7475GlyfsTer4
XM_011535641.2:c.22415dup	XP_011533943.1:p.Glu7474GlyfsTer4
XM_011535642.2:c.22403dup	XP_011533944.1:p.Glu7470GlyfsTer4
XM_011535645.2:c.20186dup	XP_011533947.1:p.Glu6731GlyfsTer4
XM_017010608.1:c.22418dup	XP_016866097.1:p.Glu7475GlyfsTer4
XM_017010609.1:c.22418dup	XP_016866098.1:p.Glu7475GlyfsTer4
XM_017010610.1:c.22397dup	XP_016866099.1:p.Glu7468GlyfsTer4
XM_017010611.2:c.22391dup	XP_016866100.1:p.Glu7466GlyfsTer4
XM_017010612.1:c.22340dup	XP_016866101.1:p.Glu7449GlyfsTer4
XM_017010613.1:c.22415dup	XP_016866102.1:p.Glu7474GlyfsTer4
XM_017010614.1:c.22262dup	XP_016866103.1:p.Glu7423GlyfsTer4
XM_017010615.1:c.22262dup	XP_016866104.1:p.Glu7423GlyfsTer4
XM_017010616.1:c.22418dup	XP_016866105.1:p.Glu7475GlyfsTer4
XM_017010617.1:c.22415dup	XP_016866106.1:p.Glu7474GlyfsTer4
XM_017010618.1:c.22403dup	XP_016866107.1:p.Glu7470GlyfsTer4
XM_017010619.1:c.20693dup	XP_016866108.1:p.Glu6900GlyfsTer4
NM_182961.4:c.22382dup MANE Select	NP_892006.3:p.Glu7463GlyfsTer4
NM_033071.5:c.22169dup	NP_149062.2:p.Glu7392GlyfsTer4