Canonical Allele Identifier: CA4054170

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 424231
• ClinVar RCV Id: RCV000479469 ; RCV000733258 ; RCV001057442 ; RCV001007793 ; RCV001153133
• dbSNP Id: rs145882956
• ExAC: 6:152545774 T / C
• gnomAD v2: 6-152545774-T-C
• gnomAD v3: 6-152224639-T-C
• gnomAD v4: 6-152224639-T-C
• MyVariant Identifiers: chr6:g.152545774T>C (hg19) ; chr6:g.152224639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152224639T>C , CM000668.2:g.152224639T>C	GRCh38
NC_000006.11:g.152545774T>C , CM000668.1:g.152545774T>C	GRCh37
NC_000006.10:g.152587467T>C	NCBI36
NG_012855.1:g.417761A>G
NG_012855.2:g.417761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.21377A>G MANE Select	ENSP00000356224.5:p.Lys7126Arg
ENST00000423061.6:c.21164A>G	ENSP00000396024.1:p.Lys7055Arg
ENST00000341594.9:c.20162A>G	ENSP00000341887.6:p.Lys6721Arg
ENST00000367251.7:c.143A>G	ENSP00000356220.3:p.Lys48Arg
ENST00000367255.9:c.21377A>G	ENSP00000356224.5:p.Lys7126Arg
ENST00000367256.9:n.5069A>G
ENST00000409694.6:n.4961A>G
ENST00000423061.5:c.21164A>G	ENSP00000396024.1:p.Lys7055Arg
NM_033071.3:c.21164A>G	NP_149062.1:p.Lys7055Arg
NM_182961.3:c.21377A>G	NP_892006.3:p.Lys7126Arg
XM_006715407.1:c.21413A>G	XP_006715470.1:p.Lys7138Arg
XM_006715408.1:c.21401A>G	XP_006715471.1:p.Lys7134Arg
XM_006715409.1:c.21392A>G	XP_006715472.1:p.Lys7131Arg
XM_006715410.1:c.21413A>G	XP_006715473.1:p.Lys7138Arg
XM_006715411.1:c.21362A>G	XP_006715474.1:p.Lys7121Arg
XM_006715412.1:c.21398A>G	XP_006715475.1:p.Lys7133Arg
XM_006715413.1:c.21413A>G	XP_006715476.1:p.Lys7138Arg
XM_006715414.1:c.21341A>G	XP_006715477.1:p.Lys7114Arg
XM_006715415.1:c.21413A>G	XP_006715478.1:p.Lys7138Arg
XM_006715416.1:c.21398A>G	XP_006715479.1:p.Lys7133Arg
XM_006715417.1:c.21272A>G	XP_006715480.1:p.Lys7091Arg
XM_006715420.1:c.21260A>G	XP_006715483.1:p.Lys7087Arg
XM_006715421.1:c.21257A>G	XP_006715484.1:p.Lys7086Arg
XM_006715422.1:c.21254A>G	XP_006715485.1:p.Lys7085Arg
XM_006715423.1:c.21413A>G	XP_006715486.1:p.Lys7138Arg
XM_006715424.1:c.21413A>G	XP_006715487.1:p.Lys7138Arg
XM_006715425.1:c.21413A>G	XP_006715488.1:p.Lys7138Arg
XM_011535641.1:c.21410A>G	XP_011533943.1:p.Lys7137Arg
XM_011535642.1:c.21398A>G	XP_011533944.1:p.Lys7133Arg
XM_011535643.1:c.21248A>G	XP_011533945.1:p.Lys7083Arg
XM_011535644.1:c.19688A>G	XP_011533946.1:p.Lys6563Arg
XM_011535645.1:c.19181A>G	XP_011533947.1:p.Lys6394Arg
XM_011535647.1:c.14648A>G	XP_011533949.1:p.Lys4883Arg
XM_006715408.2:c.21401A>G	XP_006715471.1:p.Lys7134Arg
XM_006715410.2:c.21413A>G	XP_006715473.1:p.Lys7138Arg
XM_006715412.2:c.21398A>G	XP_006715475.1:p.Lys7133Arg
XM_006715413.2:c.21413A>G	XP_006715476.1:p.Lys7138Arg
XM_006715415.2:c.21413A>G	XP_006715478.1:p.Lys7138Arg
XM_006715416.2:c.21398A>G	XP_006715479.1:p.Lys7133Arg
XM_006715417.2:c.21272A>G	XP_006715480.1:p.Lys7091Arg
XM_006715420.2:c.21260A>G	XP_006715483.1:p.Lys7087Arg
XM_006715421.2:c.21257A>G	XP_006715484.1:p.Lys7086Arg
XM_006715423.2:c.21413A>G	XP_006715486.1:p.Lys7138Arg
XM_006715424.2:c.21413A>G	XP_006715487.1:p.Lys7138Arg
XM_006715425.2:c.21413A>G	XP_006715488.1:p.Lys7138Arg
XM_011535641.2:c.21410A>G	XP_011533943.1:p.Lys7137Arg
XM_011535642.2:c.21398A>G	XP_011533944.1:p.Lys7133Arg
XM_011535645.2:c.19181A>G	XP_011533947.1:p.Lys6394Arg
XM_017010608.1:c.21413A>G	XP_016866097.1:p.Lys7138Arg
XM_017010609.1:c.21413A>G	XP_016866098.1:p.Lys7138Arg
XM_017010610.1:c.21392A>G	XP_016866099.1:p.Lys7131Arg
XM_017010611.2:c.21386A>G	XP_016866100.1:p.Lys7129Arg
XM_017010612.1:c.21335A>G	XP_016866101.1:p.Lys7112Arg
XM_017010613.1:c.21410A>G	XP_016866102.1:p.Lys7137Arg
XM_017010614.1:c.21257A>G	XP_016866103.1:p.Lys7086Arg
XM_017010615.1:c.21257A>G	XP_016866104.1:p.Lys7086Arg
XM_017010616.1:c.21413A>G	XP_016866105.1:p.Lys7138Arg
XM_017010617.1:c.21410A>G	XP_016866106.1:p.Lys7137Arg
XM_017010618.1:c.21398A>G	XP_016866107.1:p.Lys7133Arg
XM_017010619.1:c.19688A>G	XP_016866108.1:p.Lys6563Arg
NM_182961.4:c.21377A>G MANE Select	NP_892006.3:p.Lys7126Arg
NM_033071.5:c.21164A>G	NP_149062.2:p.Lys7055Arg