Canonical Allele Identifier: CA16621850
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425397
ClinVar RCV Id: RCV000487725
dbSNP Id: rs1064797331

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152293683G>A , CM000668.2:g.152293683G>A GRCh38
NC_000006.11:g.152614818G>A , CM000668.1:g.152614818G>A GRCh37
NC_000006.10:g.152656511G>A NCBI36
NG_012855.1:g.348717C>T
NG_012855.2:g.348717C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.17917C>T MANE Select ENSP00000356224.5:p.Gln5973Ter
ENST00000423061.6:c.17704C>T ENSP00000396024.1:p.Gln5902Ter
ENST00000341594.9:c.16702C>T ENSP00000341887.6:p.Gln5568Ter
ENST00000367255.9:c.17917C>T ENSP00000356224.5:p.Gln5973Ter
ENST00000367256.9:n.1609C>T
ENST00000409694.6:n.1501C>T
ENST00000423061.5:c.17704C>T ENSP00000396024.1:p.Gln5902Ter
ENST00000489156.1:n.636C>T
ENST00000537033.1:c.583C>T ENSP00000443879.1:p.Gln195Ter
ENST00000540663.5:c.442C>T ENSP00000437411.1:p.Gln148Ter
NM_033071.3:c.17704C>T NP_149062.1:p.Gln5902Ter
NM_182961.3:c.17917C>T NP_892006.3:p.Gln5973Ter
XM_006715407.1:c.17938C>T XP_006715470.1:p.Gln5980Ter
XM_006715408.1:c.17938C>T XP_006715471.1:p.Gln5980Ter
XM_006715409.1:c.17917C>T XP_006715472.1:p.Gln5973Ter
XM_006715410.1:c.17938C>T XP_006715473.1:p.Gln5980Ter
XM_006715411.1:c.17887C>T XP_006715474.1:p.Gln5963Ter
XM_006715412.1:c.17938C>T XP_006715475.1:p.Gln5980Ter
XM_006715413.1:c.17938C>T XP_006715476.1:p.Gln5980Ter
XM_006715414.1:c.17866C>T XP_006715477.1:p.Gln5956Ter
XM_006715415.1:c.17938C>T XP_006715478.1:p.Gln5980Ter
XM_006715416.1:c.17938C>T XP_006715479.1:p.Gln5980Ter
XM_006715417.1:c.17797C>T XP_006715480.1:p.Gln5933Ter
XM_006715420.1:c.17797C>T XP_006715483.1:p.Gln5933Ter
XM_006715421.1:c.17782C>T XP_006715484.1:p.Gln5928Ter
XM_006715422.1:c.17779C>T XP_006715485.1:p.Gln5927Ter
XM_006715423.1:c.17938C>T XP_006715486.1:p.Gln5980Ter
XM_006715424.1:c.17938C>T XP_006715487.1:p.Gln5980Ter
XM_006715425.1:c.17938C>T XP_006715488.1:p.Gln5980Ter
XM_011535641.1:c.17938C>T XP_011533943.1:p.Gln5980Ter
XM_011535642.1:c.17938C>T XP_011533944.1:p.Gln5980Ter
XM_011535643.1:c.17773C>T XP_011533945.1:p.Gln5925Ter
XM_011535644.1:c.16213C>T XP_011533946.1:p.Gln5405Ter
XM_011535645.1:c.15706C>T XP_011533947.1:p.Gln5236Ter
XM_011535646.1:c.17938C>T XP_011533948.1:p.Gln5980Ter
XM_011535647.1:c.11173C>T XP_011533949.1:p.Gln3725Ter
XM_006715408.2:c.17938C>T XP_006715471.1:p.Gln5980Ter
XM_006715410.2:c.17938C>T XP_006715473.1:p.Gln5980Ter
XM_006715412.2:c.17938C>T XP_006715475.1:p.Gln5980Ter
XM_006715413.2:c.17938C>T XP_006715476.1:p.Gln5980Ter
XM_006715415.2:c.17938C>T XP_006715478.1:p.Gln5980Ter
XM_006715416.2:c.17938C>T XP_006715479.1:p.Gln5980Ter
XM_006715417.2:c.17797C>T XP_006715480.1:p.Gln5933Ter
XM_006715420.2:c.17797C>T XP_006715483.1:p.Gln5933Ter
XM_006715421.2:c.17782C>T XP_006715484.1:p.Gln5928Ter
XM_006715423.2:c.17938C>T XP_006715486.1:p.Gln5980Ter
XM_006715424.2:c.17938C>T XP_006715487.1:p.Gln5980Ter
XM_006715425.2:c.17938C>T XP_006715488.1:p.Gln5980Ter
XM_011535641.2:c.17938C>T XP_011533943.1:p.Gln5980Ter
XM_011535642.2:c.17938C>T XP_011533944.1:p.Gln5980Ter
XM_011535645.2:c.15706C>T XP_011533947.1:p.Gln5236Ter
XM_017010608.1:c.17938C>T XP_016866097.1:p.Gln5980Ter
XM_017010609.1:c.17938C>T XP_016866098.1:p.Gln5980Ter
XM_017010610.1:c.17917C>T XP_016866099.1:p.Gln5973Ter
XM_017010611.2:c.17911C>T XP_016866100.1:p.Gln5971Ter
XM_017010612.1:c.17860C>T XP_016866101.1:p.Gln5954Ter
XM_017010613.1:c.17938C>T XP_016866102.1:p.Gln5980Ter
XM_017010614.1:c.17797C>T XP_016866103.1:p.Gln5933Ter
XM_017010615.1:c.17797C>T XP_016866104.1:p.Gln5933Ter
XM_017010616.1:c.17938C>T XP_016866105.1:p.Gln5980Ter
XM_017010617.1:c.17938C>T XP_016866106.1:p.Gln5980Ter
XM_017010618.1:c.17938C>T XP_016866107.1:p.Gln5980Ter
XM_017010619.1:c.16213C>T XP_016866108.1:p.Gln5405Ter
XR_001743287.1:n.18421C>T
NM_182961.4:c.17917C>T MANE Select NP_892006.3:p.Gln5973Ter
NM_033071.5:c.17704C>T NP_149062.2:p.Gln5902Ter