Canonical Allele Identifier: CA366103212

Gene: SYNE1

Linked Data

• dbSNP Id: rs749017355
• gnomAD v3: 6-152300655-C-T
• gnomAD v4: 6-152300655-C-T
• MyVariant Identifiers: chr6:g.152621790C>T (hg19) ; chr6:g.152300655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152300655C>T , CM000668.2:g.152300655C>T	GRCh38
NC_000006.11:g.152621790C>T , CM000668.1:g.152621790C>T	GRCh37
NC_000006.10:g.152663483C>T	NCBI36
NG_012855.1:g.341745G>A
NG_012855.2:g.341745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.17668G>A MANE Select	ENSP00000356224.5:p.Ala5890Thr
ENST00000423061.6:c.17455G>A	ENSP00000396024.1:p.Ala5819Thr
ENST00000341594.9:c.16453G>A	ENSP00000341887.6:p.Ala5485Thr
ENST00000367255.9:c.17668G>A	ENSP00000356224.5:p.Ala5890Thr
ENST00000367256.9:n.1360G>A
ENST00000409694.6:n.1252G>A
ENST00000423061.5:c.17455G>A	ENSP00000396024.1:p.Ala5819Thr
ENST00000489156.1:n.401+1214G>A
ENST00000537033.1:c.334G>A	ENSP00000443879.1:p.Ala112Thr
ENST00000540663.5:c.207+1214G>A	ENSP00000437411.1:n.207+1214G>A
NM_033071.3:c.17455G>A	NP_149062.1:p.Ala5819Thr
NM_182961.3:c.17668G>A	NP_892006.3:p.Ala5890Thr
XM_006715407.1:c.17689G>A	XP_006715470.1:p.Ala5897Thr
XM_006715408.1:c.17689G>A	XP_006715471.1:p.Ala5897Thr
XM_006715409.1:c.17668G>A	XP_006715472.1:p.Ala5890Thr
XM_006715410.1:c.17689G>A	XP_006715473.1:p.Ala5897Thr
XM_006715411.1:c.17638G>A	XP_006715474.1:p.Ala5880Thr
XM_006715412.1:c.17689G>A	XP_006715475.1:p.Ala5897Thr
XM_006715413.1:c.17689G>A	XP_006715476.1:p.Ala5897Thr
XM_006715414.1:c.17617G>A	XP_006715477.1:p.Ala5873Thr
XM_006715415.1:c.17689G>A	XP_006715478.1:p.Ala5897Thr
XM_006715416.1:c.17689G>A	XP_006715479.1:p.Ala5897Thr
XM_006715417.1:c.17562+1214G>A	XP_006715480.1:n.17562+1214G>A
XM_006715420.1:c.17562+1214G>A	XP_006715483.1:n.17562+1214G>A
XM_006715421.1:c.17533G>A	XP_006715484.1:p.Ala5845Thr
XM_006715422.1:c.17530G>A	XP_006715485.1:p.Ala5844Thr
XM_006715423.1:c.17689G>A	XP_006715486.1:p.Ala5897Thr
XM_006715424.1:c.17689G>A	XP_006715487.1:p.Ala5897Thr
XM_006715425.1:c.17689G>A	XP_006715488.1:p.Ala5897Thr
XM_011535641.1:c.17689G>A	XP_011533943.1:p.Ala5897Thr
XM_011535642.1:c.17689G>A	XP_011533944.1:p.Ala5897Thr
XM_011535643.1:c.17524G>A	XP_011533945.1:p.Ala5842Thr
XM_011535644.1:c.15964G>A	XP_011533946.1:p.Ala5322Thr
XM_011535645.1:c.15457G>A	XP_011533947.1:p.Ala5153Thr
XM_011535646.1:c.17689G>A	XP_011533948.1:p.Ala5897Thr
XM_011535647.1:c.10924G>A	XP_011533949.1:p.Ala3642Thr
XM_006715408.2:c.17689G>A	XP_006715471.1:p.Ala5897Thr
XM_006715410.2:c.17689G>A	XP_006715473.1:p.Ala5897Thr
XM_006715412.2:c.17689G>A	XP_006715475.1:p.Ala5897Thr
XM_006715413.2:c.17689G>A	XP_006715476.1:p.Ala5897Thr
XM_006715415.2:c.17689G>A	XP_006715478.1:p.Ala5897Thr
XM_006715416.2:c.17689G>A	XP_006715479.1:p.Ala5897Thr
XM_006715417.2:c.17562+1214G>A	XP_006715480.1:n.17562+1214G>A
XM_006715420.2:c.17562+1214G>A	XP_006715483.1:n.17562+1214G>A
XM_006715421.2:c.17533G>A	XP_006715484.1:p.Ala5845Thr
XM_006715423.2:c.17689G>A	XP_006715486.1:p.Ala5897Thr
XM_006715424.2:c.17689G>A	XP_006715487.1:p.Ala5897Thr
XM_006715425.2:c.17689G>A	XP_006715488.1:p.Ala5897Thr
XM_011535641.2:c.17689G>A	XP_011533943.1:p.Ala5897Thr
XM_011535642.2:c.17689G>A	XP_011533944.1:p.Ala5897Thr
XM_011535645.2:c.15457G>A	XP_011533947.1:p.Ala5153Thr
XM_017010608.1:c.17689G>A	XP_016866097.1:p.Ala5897Thr
XM_017010609.1:c.17689G>A	XP_016866098.1:p.Ala5897Thr
XM_017010610.1:c.17668G>A	XP_016866099.1:p.Ala5890Thr
XM_017010611.2:c.17662G>A	XP_016866100.1:p.Ala5888Thr
XM_017010612.1:c.17611G>A	XP_016866101.1:p.Ala5871Thr
XM_017010613.1:c.17689G>A	XP_016866102.1:p.Ala5897Thr
XM_017010614.1:c.17562+1214G>A	XP_016866103.1:n.17562+1214G>A
XM_017010615.1:c.17562+1214G>A	XP_016866104.1:n.17562+1214G>A
XM_017010616.1:c.17689G>A	XP_016866105.1:p.Ala5897Thr
XM_017010617.1:c.17689G>A	XP_016866106.1:p.Ala5897Thr
XM_017010618.1:c.17689G>A	XP_016866107.1:p.Ala5897Thr
XM_017010619.1:c.15964G>A	XP_016866108.1:p.Ala5322Thr
XR_001743287.1:n.18172G>A
NM_182961.4:c.17668G>A MANE Select	NP_892006.3:p.Ala5890Thr
NM_033071.5:c.17455G>A	NP_149062.2:p.Ala5819Thr