Canonical Allele Identifier: CA16042540
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373774
ClinVar RCV Id: RCV000414261
dbSNP Id: rs1057518603
MyVariant Identifiers: chr6:g.152644633del (hg19) chr6:g.152323498del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152323499del , CM000668.2:g.152323499del GRCh38
NC_000006.11:g.152644634del , CM000668.1:g.152644634del GRCh37
NC_000006.10:g.152686327del NCBI36
NG_012855.1:g.318902del
NG_012855.2:g.318902del

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.15897del MANE Select ENSP00000356224.5:p.Met5300CysfsTer6
ENST00000423061.6:c.15684del ENSP00000396024.1:p.Met5229CysfsTer6
ENST00000341594.9:c.14925del ENSP00000341887.6:p.Met4976CysfsTer6
ENST00000367255.9:c.15897del ENSP00000356224.5:p.Met5300CysfsTer6
ENST00000423061.5:c.15684del ENSP00000396024.1:p.Met5229CysfsTer6
ENST00000448038.2:c.-22del ENSP00000390975.2:n.-22del
ENST00000490135.6:n.3243del
NM_033071.3:c.15684del NP_149062.1:p.Met5229CysfsTer6
NM_182961.3:c.15897del NP_892006.3:p.Met5300CysfsTer6
XM_006715407.1:c.15918del XP_006715470.1:p.Met5307CysfsTer6
XM_006715408.1:c.15918del XP_006715471.1:p.Met5307CysfsTer6
XM_006715409.1:c.15897del XP_006715472.1:p.Met5300CysfsTer6
XM_006715410.1:c.15918del XP_006715473.1:p.Met5307CysfsTer6
XM_006715411.1:c.15867del XP_006715474.1:p.Met5290CysfsTer6
XM_006715412.1:c.15918del XP_006715475.1:p.Met5307CysfsTer6
XM_006715413.1:c.15918del XP_006715476.1:p.Met5307CysfsTer6
XM_006715414.1:c.15846del XP_006715477.1:p.Met5283CysfsTer6
XM_006715415.1:c.15918del XP_006715478.1:p.Met5307CysfsTer6
XM_006715416.1:c.15918del XP_006715479.1:p.Met5307CysfsTer6
XM_006715417.1:c.15918del XP_006715480.1:p.Met5307CysfsTer6
XM_006715420.1:c.15918del XP_006715483.1:p.Met5307CysfsTer6
XM_006715421.1:c.15762del XP_006715484.1:p.Met5255CysfsTer6
XM_006715422.1:c.15759del XP_006715485.1:p.Met5254CysfsTer6
XM_006715423.1:c.15918del XP_006715486.1:p.Met5307CysfsTer6
XM_006715424.1:c.15918del XP_006715487.1:p.Met5307CysfsTer6
XM_006715425.1:c.15918del XP_006715488.1:p.Met5307CysfsTer6
XM_011535641.1:c.15918del XP_011533943.1:p.Met5307CysfsTer6
XM_011535642.1:c.15918del XP_011533944.1:p.Met5307CysfsTer6
XM_011535643.1:c.15753del XP_011533945.1:p.Met5252CysfsTer6
XM_011535644.1:c.14193del XP_011533946.1:p.Met4732CysfsTer6
XM_011535645.1:c.13686del XP_011533947.1:p.Met4563CysfsTer6
XM_011535646.1:c.15918del XP_011533948.1:p.Met5307CysfsTer6
XM_011535647.1:c.9153del XP_011533949.1:p.Met3052CysfsTer6
XM_006715408.2:c.15918del XP_006715471.1:p.Met5307CysfsTer6
XM_006715410.2:c.15918del XP_006715473.1:p.Met5307CysfsTer6
XM_006715412.2:c.15918del XP_006715475.1:p.Met5307CysfsTer6
XM_006715413.2:c.15918del XP_006715476.1:p.Met5307CysfsTer6
XM_006715415.2:c.15918del XP_006715478.1:p.Met5307CysfsTer6
XM_006715416.2:c.15918del XP_006715479.1:p.Met5307CysfsTer6
XM_006715417.2:c.15918del XP_006715480.1:p.Met5307CysfsTer6
XM_006715420.2:c.15918del XP_006715483.1:p.Met5307CysfsTer6
XM_006715421.2:c.15762del XP_006715484.1:p.Met5255CysfsTer6
XM_006715423.2:c.15918del XP_006715486.1:p.Met5307CysfsTer6
XM_006715424.2:c.15918del XP_006715487.1:p.Met5307CysfsTer6
XM_006715425.2:c.15918del XP_006715488.1:p.Met5307CysfsTer6
XM_011535641.2:c.15918del XP_011533943.1:p.Met5307CysfsTer6
XM_011535642.2:c.15918del XP_011533944.1:p.Met5307CysfsTer6
XM_011535645.2:c.13686del XP_011533947.1:p.Met4563CysfsTer6
XM_017010608.1:c.15918del XP_016866097.1:p.Met5307CysfsTer6
XM_017010609.1:c.15918del XP_016866098.1:p.Met5307CysfsTer6
XM_017010610.1:c.15897del XP_016866099.1:p.Met5300CysfsTer6
XM_017010611.2:c.15891del XP_016866100.1:p.Met5298CysfsTer6
XM_017010612.1:c.15840del XP_016866101.1:p.Met5281CysfsTer6
XM_017010613.1:c.15918del XP_016866102.1:p.Met5307CysfsTer6
XM_017010614.1:c.15918del XP_016866103.1:p.Met5307CysfsTer6
XM_017010615.1:c.15918del XP_016866104.1:p.Met5307CysfsTer6
XM_017010616.1:c.15918del XP_016866105.1:p.Met5307CysfsTer6
XM_017010617.1:c.15918del XP_016866106.1:p.Met5307CysfsTer6
XM_017010618.1:c.15918del XP_016866107.1:p.Met5307CysfsTer6
XM_017010619.1:c.14193del XP_016866108.1:p.Met4732CysfsTer6
XR_001743287.1:n.16401del
NM_182961.4:c.15897del MANE Select NP_892006.3:p.Met5300CysfsTer6
NM_033071.5:c.15684del NP_149062.2:p.Met5229CysfsTer6
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