Canonical Allele Identifier: CA4058353

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 286235
• ClinVar RCV Id: RCV000309940 ; RCV000346116 ; RCV000337318 ; RCV000811570
• dbSNP Id: rs140005424
• ExAC: 6:152746658 G / T
• gnomAD v2: 6-152746658-G-T
• gnomAD v3: 6-152425523-G-T
• gnomAD v4: 6-152425523-G-T
• MyVariant Identifiers: chr6:g.152746658G>T (hg19) ; chr6:g.152425523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152425523G>T , CM000668.2:g.152425523G>T	GRCh38
NC_000006.11:g.152746658G>T , CM000668.1:g.152746658G>T	GRCh37
NC_000006.10:g.152788351G>T	NCBI36
NG_012855.1:g.216877C>A
NG_012855.2:g.216877C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.5125C>A MANE Select	ENSP00000356224.5:p.Gln1709Lys
ENST00000423061.6:c.5146C>A	ENSP00000396024.1:p.Gln1716Lys
ENST00000341594.9:c.5240-55C>A	ENSP00000341887.6:n.5240-55C>A
ENST00000367255.9:c.5125C>A	ENSP00000356224.5:p.Gln1709Lys
ENST00000423061.5:c.5146C>A	ENSP00000396024.1:p.Gln1716Lys
ENST00000461872.6:n.5343C>A
NM_033071.3:c.5146C>A	NP_149062.1:p.Gln1716Lys
NM_182961.3:c.5125C>A	NP_892006.3:p.Gln1709Lys
XM_006715407.1:c.5146C>A	XP_006715470.1:p.Gln1716Lys
XM_006715408.1:c.5146C>A	XP_006715471.1:p.Gln1716Lys
XM_006715409.1:c.5125C>A	XP_006715472.1:p.Gln1709Lys
XM_006715410.1:c.5146C>A	XP_006715473.1:p.Gln1716Lys
XM_006715411.1:c.5095C>A	XP_006715474.1:p.Gln1699Lys
XM_006715412.1:c.5146C>A	XP_006715475.1:p.Gln1716Lys
XM_006715413.1:c.5146C>A	XP_006715476.1:p.Gln1716Lys
XM_006715414.1:c.5074C>A	XP_006715477.1:p.Gln1692Lys
XM_006715415.1:c.5146C>A	XP_006715478.1:p.Gln1716Lys
XM_006715416.1:c.5146C>A	XP_006715479.1:p.Gln1716Lys
XM_006715417.1:c.5146C>A	XP_006715480.1:p.Gln1716Lys
XM_006715420.1:c.5146C>A	XP_006715483.1:p.Gln1716Lys
XM_006715421.1:c.5146C>A	XP_006715484.1:p.Gln1716Lys
XM_006715422.1:c.4987C>A	XP_006715485.1:p.Gln1663Lys
XM_006715423.1:c.5146C>A	XP_006715486.1:p.Gln1716Lys
XM_006715424.1:c.5146C>A	XP_006715487.1:p.Gln1716Lys
XM_006715425.1:c.5146C>A	XP_006715488.1:p.Gln1716Lys
XM_011535641.1:c.5146C>A	XP_011533943.1:p.Gln1716Lys
XM_011535642.1:c.5146C>A	XP_011533944.1:p.Gln1716Lys
XM_011535643.1:c.4981C>A	XP_011533945.1:p.Gln1661Lys
XM_011535644.1:c.3421C>A	XP_011533946.1:p.Gln1141Lys
XM_011535645.1:c.2914C>A	XP_011533947.1:p.Gln972Lys
XM_011535646.1:c.5146C>A	XP_011533948.1:p.Gln1716Lys
XM_006715408.2:c.5146C>A	XP_006715471.1:p.Gln1716Lys
XM_006715410.2:c.5146C>A	XP_006715473.1:p.Gln1716Lys
XM_006715412.2:c.5146C>A	XP_006715475.1:p.Gln1716Lys
XM_006715413.2:c.5146C>A	XP_006715476.1:p.Gln1716Lys
XM_006715415.2:c.5146C>A	XP_006715478.1:p.Gln1716Lys
XM_006715416.2:c.5146C>A	XP_006715479.1:p.Gln1716Lys
XM_006715417.2:c.5146C>A	XP_006715480.1:p.Gln1716Lys
XM_006715420.2:c.5146C>A	XP_006715483.1:p.Gln1716Lys
XM_006715421.2:c.5146C>A	XP_006715484.1:p.Gln1716Lys
XM_006715423.2:c.5146C>A	XP_006715486.1:p.Gln1716Lys
XM_006715424.2:c.5146C>A	XP_006715487.1:p.Gln1716Lys
XM_006715425.2:c.5146C>A	XP_006715488.1:p.Gln1716Lys
XM_011535641.2:c.5146C>A	XP_011533943.1:p.Gln1716Lys
XM_011535642.2:c.5146C>A	XP_011533944.1:p.Gln1716Lys
XM_011535645.2:c.2914C>A	XP_011533947.1:p.Gln972Lys
XM_017010608.1:c.5146C>A	XP_016866097.1:p.Gln1716Lys
XM_017010609.1:c.5146C>A	XP_016866098.1:p.Gln1716Lys
XM_017010610.1:c.5125C>A	XP_016866099.1:p.Gln1709Lys
XM_017010611.2:c.5119C>A	XP_016866100.1:p.Gln1707Lys
XM_017010612.1:c.5068C>A	XP_016866101.1:p.Gln1690Lys
XM_017010613.1:c.5146C>A	XP_016866102.1:p.Gln1716Lys
XM_017010614.1:c.5146C>A	XP_016866103.1:p.Gln1716Lys
XM_017010615.1:c.5146C>A	XP_016866104.1:p.Gln1716Lys
XM_017010616.1:c.5146C>A	XP_016866105.1:p.Gln1716Lys
XM_017010617.1:c.5146C>A	XP_016866106.1:p.Gln1716Lys
XM_017010618.1:c.5146C>A	XP_016866107.1:p.Gln1716Lys
XM_017010619.1:c.3421C>A	XP_016866108.1:p.Gln1141Lys
XR_001743287.1:n.5629C>A
NM_182961.4:c.5125C>A MANE Select	NP_892006.3:p.Gln1709Lys
NM_033071.5:c.5146C>A	NP_149062.2:p.Gln1716Lys