Canonical Allele Identifier: CA16605054
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383737
ClinVar RCV Id: RCV000426999
dbSNP Id: rs1057521719

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152353340T>A , CM000668.2:g.152353340T>A GRCh38
NC_000006.11:g.152674475T>A , CM000668.1:g.152674475T>A GRCh37
NC_000006.10:g.152716168T>A NCBI36
NG_012855.1:g.289060A>T
NG_012855.2:g.289060A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.11176A>T MANE Select ENSP00000356224.5:p.Lys3726Ter
ENST00000423061.6:c.11131A>T ENSP00000396024.1:p.Lys3711Ter
ENST00000341594.9:c.11038A>T ENSP00000341887.6:p.Lys3680Ter
ENST00000367255.9:c.11176A>T ENSP00000356224.5:p.Lys3726Ter
ENST00000423061.5:c.11131A>T ENSP00000396024.1:p.Lys3711Ter
ENST00000471834.1:n.4314A>T
NM_033071.3:c.11131A>T NP_149062.1:p.Lys3711Ter
NM_182961.3:c.11176A>T NP_892006.3:p.Lys3726Ter
XM_006715407.1:c.11197A>T XP_006715470.1:p.Lys3733Ter
XM_006715408.1:c.11197A>T XP_006715471.1:p.Lys3733Ter
XM_006715409.1:c.11176A>T XP_006715472.1:p.Lys3726Ter
XM_006715410.1:c.11197A>T XP_006715473.1:p.Lys3733Ter
XM_006715411.1:c.11146A>T XP_006715474.1:p.Lys3716Ter
XM_006715412.1:c.11197A>T XP_006715475.1:p.Lys3733Ter
XM_006715413.1:c.11197A>T XP_006715476.1:p.Lys3733Ter
XM_006715414.1:c.11125A>T XP_006715477.1:p.Lys3709Ter
XM_006715415.1:c.11197A>T XP_006715478.1:p.Lys3733Ter
XM_006715416.1:c.11197A>T XP_006715479.1:p.Lys3733Ter
XM_006715417.1:c.11197A>T XP_006715480.1:p.Lys3733Ter
XM_006715420.1:c.11197A>T XP_006715483.1:p.Lys3733Ter
XM_006715421.1:c.11041A>T XP_006715484.1:p.Lys3681Ter
XM_006715422.1:c.11038A>T XP_006715485.1:p.Lys3680Ter
XM_006715423.1:c.11197A>T XP_006715486.1:p.Lys3733Ter
XM_006715424.1:c.11197A>T XP_006715487.1:p.Lys3733Ter
XM_006715425.1:c.11197A>T XP_006715488.1:p.Lys3733Ter
XM_011535641.1:c.11197A>T XP_011533943.1:p.Lys3733Ter
XM_011535642.1:c.11197A>T XP_011533944.1:p.Lys3733Ter
XM_011535643.1:c.11032A>T XP_011533945.1:p.Lys3678Ter
XM_011535644.1:c.9472A>T XP_011533946.1:p.Lys3158Ter
XM_011535645.1:c.8965A>T XP_011533947.1:p.Lys2989Ter
XM_011535646.1:c.11197A>T XP_011533948.1:p.Lys3733Ter
XM_011535647.1:c.4432A>T XP_011533949.1:p.Lys1478Ter
XM_006715408.2:c.11197A>T XP_006715471.1:p.Lys3733Ter
XM_006715410.2:c.11197A>T XP_006715473.1:p.Lys3733Ter
XM_006715412.2:c.11197A>T XP_006715475.1:p.Lys3733Ter
XM_006715413.2:c.11197A>T XP_006715476.1:p.Lys3733Ter
XM_006715415.2:c.11197A>T XP_006715478.1:p.Lys3733Ter
XM_006715416.2:c.11197A>T XP_006715479.1:p.Lys3733Ter
XM_006715417.2:c.11197A>T XP_006715480.1:p.Lys3733Ter
XM_006715420.2:c.11197A>T XP_006715483.1:p.Lys3733Ter
XM_006715421.2:c.11041A>T XP_006715484.1:p.Lys3681Ter
XM_006715423.2:c.11197A>T XP_006715486.1:p.Lys3733Ter
XM_006715424.2:c.11197A>T XP_006715487.1:p.Lys3733Ter
XM_006715425.2:c.11197A>T XP_006715488.1:p.Lys3733Ter
XM_011535641.2:c.11197A>T XP_011533943.1:p.Lys3733Ter
XM_011535642.2:c.11197A>T XP_011533944.1:p.Lys3733Ter
XM_011535645.2:c.8965A>T XP_011533947.1:p.Lys2989Ter
XM_017010608.1:c.11197A>T XP_016866097.1:p.Lys3733Ter
XM_017010609.1:c.11197A>T XP_016866098.1:p.Lys3733Ter
XM_017010610.1:c.11176A>T XP_016866099.1:p.Lys3726Ter
XM_017010611.2:c.11170A>T XP_016866100.1:p.Lys3724Ter
XM_017010612.1:c.11119A>T XP_016866101.1:p.Lys3707Ter
XM_017010613.1:c.11197A>T XP_016866102.1:p.Lys3733Ter
XM_017010614.1:c.11197A>T XP_016866103.1:p.Lys3733Ter
XM_017010615.1:c.11197A>T XP_016866104.1:p.Lys3733Ter
XM_017010616.1:c.11197A>T XP_016866105.1:p.Lys3733Ter
XM_017010617.1:c.11197A>T XP_016866106.1:p.Lys3733Ter
XM_017010618.1:c.11197A>T XP_016866107.1:p.Lys3733Ter
XM_017010619.1:c.9472A>T XP_016866108.1:p.Lys3158Ter
XR_001743287.1:n.11680A>T
NM_182961.4:c.11176A>T MANE Select NP_892006.3:p.Lys3726Ter
NM_033071.5:c.11131A>T NP_149062.2:p.Lys3711Ter