Canonical Allele Identifier: CA4055824

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 904583
• ClinVar RCV Id: RCV001152582 ; RCV001152583
• dbSNP Id: rs759275432
• ExAC: 6:152647230 C / T
• gnomAD v2: 6-152647230-C-T
• gnomAD v4: 6-152326095-C-T
• COSMIC: COSM483560 ; COSM483561 ; COSM1137447
• MyVariant Identifiers: chr6:g.152647230C>T (hg19) ; chr6:g.152326095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152326095C>T , CM000668.2:g.152326095C>T	GRCh38
NC_000006.11:g.152647230C>T , CM000668.1:g.152647230C>T	GRCh37
NC_000006.10:g.152688923C>T	NCBI36
NG_012855.1:g.316305G>A
NG_012855.2:g.316305G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.15301G>A MANE Select	ENSP00000356224.5:p.Ala5101Thr
ENST00000423061.6:c.15088G>A	ENSP00000396024.1:p.Ala5030Thr
ENST00000341594.9:c.14466+218G>A	ENSP00000341887.6:n.14466+218G>A
ENST00000367255.9:c.15301G>A	ENSP00000356224.5:p.Ala5101Thr
ENST00000423061.5:c.15088G>A	ENSP00000396024.1:p.Ala5030Thr
ENST00000448038.2:c.-618G>A	ENSP00000390975.2:n.-618G>A
ENST00000490135.6:n.2647G>A
NM_033071.3:c.15088G>A	NP_149062.1:p.Ala5030Thr
NM_182961.3:c.15301G>A	NP_892006.3:p.Ala5101Thr
XM_006715407.1:c.15322G>A	XP_006715470.1:p.Ala5108Thr
XM_006715408.1:c.15322G>A	XP_006715471.1:p.Ala5108Thr
XM_006715409.1:c.15301G>A	XP_006715472.1:p.Ala5101Thr
XM_006715410.1:c.15322G>A	XP_006715473.1:p.Ala5108Thr
XM_006715411.1:c.15271G>A	XP_006715474.1:p.Ala5091Thr
XM_006715412.1:c.15322G>A	XP_006715475.1:p.Ala5108Thr
XM_006715413.1:c.15322G>A	XP_006715476.1:p.Ala5108Thr
XM_006715414.1:c.15250G>A	XP_006715477.1:p.Ala5084Thr
XM_006715415.1:c.15322G>A	XP_006715478.1:p.Ala5108Thr
XM_006715416.1:c.15322G>A	XP_006715479.1:p.Ala5108Thr
XM_006715417.1:c.15322G>A	XP_006715480.1:p.Ala5108Thr
XM_006715420.1:c.15322G>A	XP_006715483.1:p.Ala5108Thr
XM_006715421.1:c.15166G>A	XP_006715484.1:p.Ala5056Thr
XM_006715422.1:c.15163G>A	XP_006715485.1:p.Ala5055Thr
XM_006715423.1:c.15322G>A	XP_006715486.1:p.Ala5108Thr
XM_006715424.1:c.15322G>A	XP_006715487.1:p.Ala5108Thr
XM_006715425.1:c.15322G>A	XP_006715488.1:p.Ala5108Thr
XM_011535641.1:c.15322G>A	XP_011533943.1:p.Ala5108Thr
XM_011535642.1:c.15322G>A	XP_011533944.1:p.Ala5108Thr
XM_011535643.1:c.15157G>A	XP_011533945.1:p.Ala5053Thr
XM_011535644.1:c.13597G>A	XP_011533946.1:p.Ala4533Thr
XM_011535645.1:c.13090G>A	XP_011533947.1:p.Ala4364Thr
XM_011535646.1:c.15322G>A	XP_011533948.1:p.Ala5108Thr
XM_011535647.1:c.8557G>A	XP_011533949.1:p.Ala2853Thr
XM_006715408.2:c.15322G>A	XP_006715471.1:p.Ala5108Thr
XM_006715410.2:c.15322G>A	XP_006715473.1:p.Ala5108Thr
XM_006715412.2:c.15322G>A	XP_006715475.1:p.Ala5108Thr
XM_006715413.2:c.15322G>A	XP_006715476.1:p.Ala5108Thr
XM_006715415.2:c.15322G>A	XP_006715478.1:p.Ala5108Thr
XM_006715416.2:c.15322G>A	XP_006715479.1:p.Ala5108Thr
XM_006715417.2:c.15322G>A	XP_006715480.1:p.Ala5108Thr
XM_006715420.2:c.15322G>A	XP_006715483.1:p.Ala5108Thr
XM_006715421.2:c.15166G>A	XP_006715484.1:p.Ala5056Thr
XM_006715423.2:c.15322G>A	XP_006715486.1:p.Ala5108Thr
XM_006715424.2:c.15322G>A	XP_006715487.1:p.Ala5108Thr
XM_006715425.2:c.15322G>A	XP_006715488.1:p.Ala5108Thr
XM_011535641.2:c.15322G>A	XP_011533943.1:p.Ala5108Thr
XM_011535642.2:c.15322G>A	XP_011533944.1:p.Ala5108Thr
XM_011535645.2:c.13090G>A	XP_011533947.1:p.Ala4364Thr
XM_017010608.1:c.15322G>A	XP_016866097.1:p.Ala5108Thr
XM_017010609.1:c.15322G>A	XP_016866098.1:p.Ala5108Thr
XM_017010610.1:c.15301G>A	XP_016866099.1:p.Ala5101Thr
XM_017010611.2:c.15295G>A	XP_016866100.1:p.Ala5099Thr
XM_017010612.1:c.15244G>A	XP_016866101.1:p.Ala5082Thr
XM_017010613.1:c.15322G>A	XP_016866102.1:p.Ala5108Thr
XM_017010614.1:c.15322G>A	XP_016866103.1:p.Ala5108Thr
XM_017010615.1:c.15322G>A	XP_016866104.1:p.Ala5108Thr
XM_017010616.1:c.15322G>A	XP_016866105.1:p.Ala5108Thr
XM_017010617.1:c.15322G>A	XP_016866106.1:p.Ala5108Thr
XM_017010618.1:c.15322G>A	XP_016866107.1:p.Ala5108Thr
XM_017010619.1:c.13597G>A	XP_016866108.1:p.Ala4533Thr
XR_001743287.1:n.15805G>A
NM_182961.4:c.15301G>A MANE Select	NP_892006.3:p.Ala5101Thr
NM_033071.5:c.15088G>A	NP_149062.2:p.Ala5030Thr