Canonical Allele Identifier: CA4056110
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283313
dbSNP Id: rs112266645

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152330822C>T , CM000668.2:g.152330822C>T GRCh38
NC_000006.11:g.152651957C>T , CM000668.1:g.152651957C>T GRCh37
NC_000006.10:g.152693650C>T NCBI36
NG_012855.1:g.311578G>A
NG_012855.2:g.311578G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.13863G>A MANE Select ENSP00000356224.5:p.Thr4621=
ENST00000423061.6:c.13650G>A ENSP00000396024.1:p.Thr4550=
ENST00000341594.9:c.13053G>A ENSP00000341887.6:p.Thr4351=
ENST00000367255.9:c.13863G>A ENSP00000356224.5:p.Thr4621=
ENST00000423061.5:c.13650G>A ENSP00000396024.1:p.Thr4550=
ENST00000448038.2:c.-2056G>A ENSP00000390975.2:n.-2056G>A
ENST00000490135.6:n.1209G>A
NM_033071.3:c.13650G>A NP_149062.1:p.Thr4550=
NM_182961.3:c.13863G>A NP_892006.3:p.Thr4621=
XM_006715407.1:c.13884G>A XP_006715470.1:p.Thr4628=
XM_006715408.1:c.13884G>A XP_006715471.1:p.Thr4628=
XM_006715409.1:c.13863G>A XP_006715472.1:p.Thr4621=
XM_006715410.1:c.13884G>A XP_006715473.1:p.Thr4628=
XM_006715411.1:c.13833G>A XP_006715474.1:p.Thr4611=
XM_006715412.1:c.13884G>A XP_006715475.1:p.Thr4628=
XM_006715413.1:c.13884G>A XP_006715476.1:p.Thr4628=
XM_006715414.1:c.13812G>A XP_006715477.1:p.Thr4604=
XM_006715415.1:c.13884G>A XP_006715478.1:p.Thr4628=
XM_006715416.1:c.13884G>A XP_006715479.1:p.Thr4628=
XM_006715417.1:c.13884G>A XP_006715480.1:p.Thr4628=
XM_006715420.1:c.13884G>A XP_006715483.1:p.Thr4628=
XM_006715421.1:c.13728G>A XP_006715484.1:p.Thr4576=
XM_006715422.1:c.13725G>A XP_006715485.1:p.Thr4575=
XM_006715423.1:c.13884G>A XP_006715486.1:p.Thr4628=
XM_006715424.1:c.13884G>A XP_006715487.1:p.Thr4628=
XM_006715425.1:c.13884G>A XP_006715488.1:p.Thr4628=
XM_011535641.1:c.13884G>A XP_011533943.1:p.Thr4628=
XM_011535642.1:c.13884G>A XP_011533944.1:p.Thr4628=
XM_011535643.1:c.13719G>A XP_011533945.1:p.Thr4573=
XM_011535644.1:c.12159G>A XP_011533946.1:p.Thr4053=
XM_011535645.1:c.11652G>A XP_011533947.1:p.Thr3884=
XM_011535646.1:c.13884G>A XP_011533948.1:p.Thr4628=
XM_011535647.1:c.7119G>A XP_011533949.1:p.Thr2373=
XM_006715408.2:c.13884G>A XP_006715471.1:p.Thr4628=
XM_006715410.2:c.13884G>A XP_006715473.1:p.Thr4628=
XM_006715412.2:c.13884G>A XP_006715475.1:p.Thr4628=
XM_006715413.2:c.13884G>A XP_006715476.1:p.Thr4628=
XM_006715415.2:c.13884G>A XP_006715478.1:p.Thr4628=
XM_006715416.2:c.13884G>A XP_006715479.1:p.Thr4628=
XM_006715417.2:c.13884G>A XP_006715480.1:p.Thr4628=
XM_006715420.2:c.13884G>A XP_006715483.1:p.Thr4628=
XM_006715421.2:c.13728G>A XP_006715484.1:p.Thr4576=
XM_006715423.2:c.13884G>A XP_006715486.1:p.Thr4628=
XM_006715424.2:c.13884G>A XP_006715487.1:p.Thr4628=
XM_006715425.2:c.13884G>A XP_006715488.1:p.Thr4628=
XM_011535641.2:c.13884G>A XP_011533943.1:p.Thr4628=
XM_011535642.2:c.13884G>A XP_011533944.1:p.Thr4628=
XM_011535645.2:c.11652G>A XP_011533947.1:p.Thr3884=
XM_017010608.1:c.13884G>A XP_016866097.1:p.Thr4628=
XM_017010609.1:c.13884G>A XP_016866098.1:p.Thr4628=
XM_017010610.1:c.13863G>A XP_016866099.1:p.Thr4621=
XM_017010611.2:c.13857G>A XP_016866100.1:p.Thr4619=
XM_017010612.1:c.13806G>A XP_016866101.1:p.Thr4602=
XM_017010613.1:c.13884G>A XP_016866102.1:p.Thr4628=
XM_017010614.1:c.13884G>A XP_016866103.1:p.Thr4628=
XM_017010615.1:c.13884G>A XP_016866104.1:p.Thr4628=
XM_017010616.1:c.13884G>A XP_016866105.1:p.Thr4628=
XM_017010617.1:c.13884G>A XP_016866106.1:p.Thr4628=
XM_017010618.1:c.13884G>A XP_016866107.1:p.Thr4628=
XM_017010619.1:c.12159G>A XP_016866108.1:p.Thr4053=
XR_001743287.1:n.14367G>A
NM_182961.4:c.13863G>A MANE Select NP_892006.3:p.Thr4621=
NM_033071.5:c.13650G>A NP_149062.2:p.Thr4550=