Canonical Allele Identifier: CA4053914
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282179
dbSNP Id: rs371642308

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152214949G>A , CM000668.2:g.152214949G>A GRCh38
NC_000006.11:g.152536084G>A , CM000668.1:g.152536084G>A GRCh37
NC_000006.10:g.152577777G>A NCBI36
NG_012855.1:g.427451C>T
NG_012855.2:g.427451C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367255.10:c.22303C>T MANE Select ENSP00000356224.5:p.Arg7435Cys
ENST00000423061.6:c.22090C>T ENSP00000396024.1:p.Arg7364Cys
ENST00000341594.9:c.21088C>T ENSP00000341887.6:p.Arg7030Cys
ENST00000367251.7:c.1069C>T ENSP00000356220.3:p.Arg357Cys
ENST00000367255.9:c.22303C>T ENSP00000356224.5:p.Arg7435Cys
ENST00000367256.9:n.5995C>T
ENST00000367257.8:c.241C>T ENSP00000356226.4:p.Arg81Cys
ENST00000409694.6:n.5887C>T
ENST00000423061.5:c.22090C>T ENSP00000396024.1:p.Arg7364Cys
NM_033071.3:c.22090C>T NP_149062.1:p.Arg7364Cys
NM_182961.3:c.22303C>T NP_892006.3:p.Arg7435Cys
XM_006715407.1:c.22339C>T XP_006715470.1:p.Arg7447Cys
XM_006715408.1:c.22327C>T XP_006715471.1:p.Arg7443Cys
XM_006715409.1:c.22318C>T XP_006715472.1:p.Arg7440Cys
XM_006715410.1:c.22339C>T XP_006715473.1:p.Arg7447Cys
XM_006715411.1:c.22288C>T XP_006715474.1:p.Arg7430Cys
XM_006715412.1:c.22324C>T XP_006715475.1:p.Arg7442Cys
XM_006715413.1:c.22339C>T XP_006715476.1:p.Arg7447Cys
XM_006715414.1:c.22267C>T XP_006715477.1:p.Arg7423Cys
XM_006715415.1:c.22339C>T XP_006715478.1:p.Arg7447Cys
XM_006715416.1:c.22324C>T XP_006715479.1:p.Arg7442Cys
XM_006715417.1:c.22198C>T XP_006715480.1:p.Arg7400Cys
XM_006715420.1:c.22186C>T XP_006715483.1:p.Arg7396Cys
XM_006715421.1:c.22183C>T XP_006715484.1:p.Arg7395Cys
XM_006715422.1:c.22180C>T XP_006715485.1:p.Arg7394Cys
XM_006715423.1:c.22339C>T XP_006715486.1:p.Arg7447Cys
XM_006715424.1:c.22339C>T XP_006715487.1:p.Arg7447Cys
XM_006715425.1:c.22339C>T XP_006715488.1:p.Arg7447Cys
XM_011535641.1:c.22336C>T XP_011533943.1:p.Arg7446Cys
XM_011535642.1:c.22324C>T XP_011533944.1:p.Arg7442Cys
XM_011535643.1:c.22174C>T XP_011533945.1:p.Arg7392Cys
XM_011535644.1:c.20614C>T XP_011533946.1:p.Arg6872Cys
XM_011535645.1:c.20107C>T XP_011533947.1:p.Arg6703Cys
XM_011535647.1:c.15574C>T XP_011533949.1:p.Arg5192Cys
XM_006715408.2:c.22327C>T XP_006715471.1:p.Arg7443Cys
XM_006715410.2:c.22339C>T XP_006715473.1:p.Arg7447Cys
XM_006715412.2:c.22324C>T XP_006715475.1:p.Arg7442Cys
XM_006715413.2:c.22339C>T XP_006715476.1:p.Arg7447Cys
XM_006715415.2:c.22339C>T XP_006715478.1:p.Arg7447Cys
XM_006715416.2:c.22324C>T XP_006715479.1:p.Arg7442Cys
XM_006715417.2:c.22198C>T XP_006715480.1:p.Arg7400Cys
XM_006715420.2:c.22186C>T XP_006715483.1:p.Arg7396Cys
XM_006715421.2:c.22183C>T XP_006715484.1:p.Arg7395Cys
XM_006715423.2:c.22339C>T XP_006715486.1:p.Arg7447Cys
XM_006715424.2:c.22339C>T XP_006715487.1:p.Arg7447Cys
XM_006715425.2:c.22339C>T XP_006715488.1:p.Arg7447Cys
XM_011535641.2:c.22336C>T XP_011533943.1:p.Arg7446Cys
XM_011535642.2:c.22324C>T XP_011533944.1:p.Arg7442Cys
XM_011535645.2:c.20107C>T XP_011533947.1:p.Arg6703Cys
XM_017010608.1:c.22339C>T XP_016866097.1:p.Arg7447Cys
XM_017010609.1:c.22339C>T XP_016866098.1:p.Arg7447Cys
XM_017010610.1:c.22318C>T XP_016866099.1:p.Arg7440Cys
XM_017010611.2:c.22312C>T XP_016866100.1:p.Arg7438Cys
XM_017010612.1:c.22261C>T XP_016866101.1:p.Arg7421Cys
XM_017010613.1:c.22336C>T XP_016866102.1:p.Arg7446Cys
XM_017010614.1:c.22183C>T XP_016866103.1:p.Arg7395Cys
XM_017010615.1:c.22183C>T XP_016866104.1:p.Arg7395Cys
XM_017010616.1:c.22339C>T XP_016866105.1:p.Arg7447Cys
XM_017010617.1:c.22336C>T XP_016866106.1:p.Arg7446Cys
XM_017010618.1:c.22324C>T XP_016866107.1:p.Arg7442Cys
XM_017010619.1:c.20614C>T XP_016866108.1:p.Arg6872Cys
NM_182961.4:c.22303C>T MANE Select NP_892006.3:p.Arg7435Cys
NM_033071.5:c.22090C>T NP_149062.2:p.Arg7364Cys