Canonical Allele Identifier: CA366103182
Gene: SYNE1 HGNC NCBI

Linked Data

dbSNP Id: rs2153809435

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152300651G>A , CM000668.2:g.152300651G>A GRCh38
NC_000006.11:g.152621786G>A , CM000668.1:g.152621786G>A GRCh37
NC_000006.10:g.152663479G>A NCBI36
NG_012855.1:g.341749C>T
NG_012855.2:g.341749C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.17672C>T MANE Select ENSP00000356224.5:p.Ser5891Phe
ENST00000423061.6:c.17459C>T ENSP00000396024.1:p.Ser5820Phe
ENST00000341594.9:c.16457C>T ENSP00000341887.6:p.Ser5486Phe
ENST00000367255.9:c.17672C>T ENSP00000356224.5:p.Ser5891Phe
ENST00000367256.9:n.1364C>T
ENST00000409694.6:n.1256C>T
ENST00000423061.5:c.17459C>T ENSP00000396024.1:p.Ser5820Phe
ENST00000489156.1:n.401+1218C>T
ENST00000537033.1:c.338C>T ENSP00000443879.1:p.Ser113Phe
ENST00000540663.5:c.207+1218C>T ENSP00000437411.1:n.207+1218C>T
NM_033071.3:c.17459C>T NP_149062.1:p.Ser5820Phe
NM_182961.3:c.17672C>T NP_892006.3:p.Ser5891Phe
XM_006715407.1:c.17693C>T XP_006715470.1:p.Ser5898Phe
XM_006715408.1:c.17693C>T XP_006715471.1:p.Ser5898Phe
XM_006715409.1:c.17672C>T XP_006715472.1:p.Ser5891Phe
XM_006715410.1:c.17693C>T XP_006715473.1:p.Ser5898Phe
XM_006715411.1:c.17642C>T XP_006715474.1:p.Ser5881Phe
XM_006715412.1:c.17693C>T XP_006715475.1:p.Ser5898Phe
XM_006715413.1:c.17693C>T XP_006715476.1:p.Ser5898Phe
XM_006715414.1:c.17621C>T XP_006715477.1:p.Ser5874Phe
XM_006715415.1:c.17693C>T XP_006715478.1:p.Ser5898Phe
XM_006715416.1:c.17693C>T XP_006715479.1:p.Ser5898Phe
XM_006715417.1:c.17562+1218C>T XP_006715480.1:n.17562+1218C>T
XM_006715420.1:c.17562+1218C>T XP_006715483.1:n.17562+1218C>T
XM_006715421.1:c.17537C>T XP_006715484.1:p.Ser5846Phe
XM_006715422.1:c.17534C>T XP_006715485.1:p.Ser5845Phe
XM_006715423.1:c.17693C>T XP_006715486.1:p.Ser5898Phe
XM_006715424.1:c.17693C>T XP_006715487.1:p.Ser5898Phe
XM_006715425.1:c.17693C>T XP_006715488.1:p.Ser5898Phe
XM_011535641.1:c.17693C>T XP_011533943.1:p.Ser5898Phe
XM_011535642.1:c.17693C>T XP_011533944.1:p.Ser5898Phe
XM_011535643.1:c.17528C>T XP_011533945.1:p.Ser5843Phe
XM_011535644.1:c.15968C>T XP_011533946.1:p.Ser5323Phe
XM_011535645.1:c.15461C>T XP_011533947.1:p.Ser5154Phe
XM_011535646.1:c.17693C>T XP_011533948.1:p.Ser5898Phe
XM_011535647.1:c.10928C>T XP_011533949.1:p.Ser3643Phe
XM_006715408.2:c.17693C>T XP_006715471.1:p.Ser5898Phe
XM_006715410.2:c.17693C>T XP_006715473.1:p.Ser5898Phe
XM_006715412.2:c.17693C>T XP_006715475.1:p.Ser5898Phe
XM_006715413.2:c.17693C>T XP_006715476.1:p.Ser5898Phe
XM_006715415.2:c.17693C>T XP_006715478.1:p.Ser5898Phe
XM_006715416.2:c.17693C>T XP_006715479.1:p.Ser5898Phe
XM_006715417.2:c.17562+1218C>T XP_006715480.1:n.17562+1218C>T
XM_006715420.2:c.17562+1218C>T XP_006715483.1:n.17562+1218C>T
XM_006715421.2:c.17537C>T XP_006715484.1:p.Ser5846Phe
XM_006715423.2:c.17693C>T XP_006715486.1:p.Ser5898Phe
XM_006715424.2:c.17693C>T XP_006715487.1:p.Ser5898Phe
XM_006715425.2:c.17693C>T XP_006715488.1:p.Ser5898Phe
XM_011535641.2:c.17693C>T XP_011533943.1:p.Ser5898Phe
XM_011535642.2:c.17693C>T XP_011533944.1:p.Ser5898Phe
XM_011535645.2:c.15461C>T XP_011533947.1:p.Ser5154Phe
XM_017010608.1:c.17693C>T XP_016866097.1:p.Ser5898Phe
XM_017010609.1:c.17693C>T XP_016866098.1:p.Ser5898Phe
XM_017010610.1:c.17672C>T XP_016866099.1:p.Ser5891Phe
XM_017010611.2:c.17666C>T XP_016866100.1:p.Ser5889Phe
XM_017010612.1:c.17615C>T XP_016866101.1:p.Ser5872Phe
XM_017010613.1:c.17693C>T XP_016866102.1:p.Ser5898Phe
XM_017010614.1:c.17562+1218C>T XP_016866103.1:n.17562+1218C>T
XM_017010615.1:c.17562+1218C>T XP_016866104.1:n.17562+1218C>T
XM_017010616.1:c.17693C>T XP_016866105.1:p.Ser5898Phe
XM_017010617.1:c.17693C>T XP_016866106.1:p.Ser5898Phe
XM_017010618.1:c.17693C>T XP_016866107.1:p.Ser5898Phe
XM_017010619.1:c.15968C>T XP_016866108.1:p.Ser5323Phe
XR_001743287.1:n.18176C>T
NM_182961.4:c.17672C>T MANE Select NP_892006.3:p.Ser5891Phe
NM_033071.5:c.17459C>T NP_149062.2:p.Ser5820Phe