Canonical Allele Identifier: CA4058357

Gene: SYNE1

Linked Data

• dbSNP Id: rs760488570
• ExAC: 6:152746699 A / AT
• gnomAD v2: 6-152746699-A-AT
• gnomAD v4: 6-152425564-A-AT
• MyVariant Identifiers: chr6:g.152746699_152746700insT (hg19) ; chr6:g.152425564_152425565insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152425566dup , CM000668.2:g.152425566dup	GRCh38
NC_000006.11:g.152746701dup , CM000668.1:g.152746701dup	GRCh37
NC_000006.10:g.152788394dup	NCBI36
NG_012855.1:g.216835dup
NG_012855.2:g.216835dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.5101-18dup MANE Select	ENSP00000356224.5:n.5101-18dup
ENST00000423061.6:c.5122-18dup	ENSP00000396024.1:n.5122-18dup
ENST00000341594.9:c.5240-97dup	ENSP00000341887.6:n.5240-97dup
ENST00000367255.9:c.5101-18dup	ENSP00000356224.5:n.5101-18dup
ENST00000423061.5:c.5122-18dup	ENSP00000396024.1:n.5122-18dup
ENST00000461872.6:n.5319-18dup
NM_033071.3:c.5122-18dup	NP_149062.1:n.5122-18dup
NM_182961.3:c.5101-18dup	NP_892006.3:n.5101-18dup
XM_006715407.1:c.5122-18dup	XP_006715470.1:n.5122-18dup
XM_006715408.1:c.5122-18dup	XP_006715471.1:n.5122-18dup
XM_006715409.1:c.5101-18dup	XP_006715472.1:n.5101-18dup
XM_006715410.1:c.5122-18dup	XP_006715473.1:n.5122-18dup
XM_006715411.1:c.5071-18dup	XP_006715474.1:n.5071-18dup
XM_006715412.1:c.5122-18dup	XP_006715475.1:n.5122-18dup
XM_006715413.1:c.5122-18dup	XP_006715476.1:n.5122-18dup
XM_006715414.1:c.5050-18dup	XP_006715477.1:n.5050-18dup
XM_006715415.1:c.5122-18dup	XP_006715478.1:n.5122-18dup
XM_006715416.1:c.5122-18dup	XP_006715479.1:n.5122-18dup
XM_006715417.1:c.5122-18dup	XP_006715480.1:n.5122-18dup
XM_006715420.1:c.5122-18dup	XP_006715483.1:n.5122-18dup
XM_006715421.1:c.5122-18dup	XP_006715484.1:n.5122-18dup
XM_006715422.1:c.4963-18dup	XP_006715485.1:n.4963-18dup
XM_006715423.1:c.5122-18dup	XP_006715486.1:n.5122-18dup
XM_006715424.1:c.5122-18dup	XP_006715487.1:n.5122-18dup
XM_006715425.1:c.5122-18dup	XP_006715488.1:n.5122-18dup
XM_011535641.1:c.5122-18dup	XP_011533943.1:n.5122-18dup
XM_011535642.1:c.5122-18dup	XP_011533944.1:n.5122-18dup
XM_011535643.1:c.4957-18dup	XP_011533945.1:n.4957-18dup
XM_011535644.1:c.3397-18dup	XP_011533946.1:n.3397-18dup
XM_011535645.1:c.2890-18dup	XP_011533947.1:n.2890-18dup
XM_011535646.1:c.5122-18dup	XP_011533948.1:n.5122-18dup
XM_006715408.2:c.5122-18dup	XP_006715471.1:n.5122-18dup
XM_006715410.2:c.5122-18dup	XP_006715473.1:n.5122-18dup
XM_006715412.2:c.5122-18dup	XP_006715475.1:n.5122-18dup
XM_006715413.2:c.5122-18dup	XP_006715476.1:n.5122-18dup
XM_006715415.2:c.5122-18dup	XP_006715478.1:n.5122-18dup
XM_006715416.2:c.5122-18dup	XP_006715479.1:n.5122-18dup
XM_006715417.2:c.5122-18dup	XP_006715480.1:n.5122-18dup
XM_006715420.2:c.5122-18dup	XP_006715483.1:n.5122-18dup
XM_006715421.2:c.5122-18dup	XP_006715484.1:n.5122-18dup
XM_006715423.2:c.5122-18dup	XP_006715486.1:n.5122-18dup
XM_006715424.2:c.5122-18dup	XP_006715487.1:n.5122-18dup
XM_006715425.2:c.5122-18dup	XP_006715488.1:n.5122-18dup
XM_011535641.2:c.5122-18dup	XP_011533943.1:n.5122-18dup
XM_011535642.2:c.5122-18dup	XP_011533944.1:n.5122-18dup
XM_011535645.2:c.2890-18dup	XP_011533947.1:n.2890-18dup
XM_017010608.1:c.5122-18dup	XP_016866097.1:n.5122-18dup
XM_017010609.1:c.5122-18dup	XP_016866098.1:n.5122-18dup
XM_017010610.1:c.5101-18dup	XP_016866099.1:n.5101-18dup
XM_017010611.2:c.5095-18dup	XP_016866100.1:n.5095-18dup
XM_017010612.1:c.5044-18dup	XP_016866101.1:n.5044-18dup
XM_017010613.1:c.5122-18dup	XP_016866102.1:n.5122-18dup
XM_017010614.1:c.5122-18dup	XP_016866103.1:n.5122-18dup
XM_017010615.1:c.5122-18dup	XP_016866104.1:n.5122-18dup
XM_017010616.1:c.5122-18dup	XP_016866105.1:n.5122-18dup
XM_017010617.1:c.5122-18dup	XP_016866106.1:n.5122-18dup
XM_017010618.1:c.5122-18dup	XP_016866107.1:n.5122-18dup
XM_017010619.1:c.3397-18dup	XP_016866108.1:n.3397-18dup
XR_001743287.1:n.5605-18dup
NM_182961.4:c.5101-18dup MANE Select	NP_892006.3:n.5101-18dup
NM_033071.5:c.5122-18dup	NP_149062.2:n.5122-18dup