Canonical Allele Identifier: CA366111242

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 858288
• ClinVar RCV Id: RCV001064134
• dbSNP Id: rs2097719630
• gnomAD v4: 6-152395584-C-G
• MyVariant Identifiers: chr6:g.152716719C>G (hg19) ; chr6:g.152395584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152395584C>G , CM000668.2:g.152395584C>G	GRCh38
NC_000006.11:g.152716719C>G , CM000668.1:g.152716719C>G	GRCh37
NC_000006.10:g.152758412C>G	NCBI36
NG_012855.1:g.246816G>C
NG_012855.2:g.246816G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.7644G>C MANE Select	ENSP00000356224.5:p.Gln2548His
ENST00000423061.6:c.7665G>C	ENSP00000396024.1:p.Gln2555His
ENST00000341594.9:c.7710G>C	ENSP00000341887.6:p.Gln2570His
ENST00000367255.9:c.7644G>C	ENSP00000356224.5:p.Gln2548His
ENST00000423061.5:c.7665G>C	ENSP00000396024.1:p.Gln2555His
ENST00000461872.6:n.7862G>C
NM_033071.3:c.7665G>C	NP_149062.1:p.Gln2555His
NM_182961.3:c.7644G>C	NP_892006.3:p.Gln2548His
XM_006715407.1:c.7665G>C	XP_006715470.1:p.Gln2555His
XM_006715408.1:c.7665G>C	XP_006715471.1:p.Gln2555His
XM_006715409.1:c.7644G>C	XP_006715472.1:p.Gln2548His
XM_006715410.1:c.7665G>C	XP_006715473.1:p.Gln2555His
XM_006715411.1:c.7614G>C	XP_006715474.1:p.Gln2538His
XM_006715412.1:c.7665G>C	XP_006715475.1:p.Gln2555His
XM_006715413.1:c.7665G>C	XP_006715476.1:p.Gln2555His
XM_006715414.1:c.7593G>C	XP_006715477.1:p.Gln2531His
XM_006715415.1:c.7665G>C	XP_006715478.1:p.Gln2555His
XM_006715416.1:c.7665G>C	XP_006715479.1:p.Gln2555His
XM_006715417.1:c.7665G>C	XP_006715480.1:p.Gln2555His
XM_006715420.1:c.7665G>C	XP_006715483.1:p.Gln2555His
XM_006715421.1:c.7665G>C	XP_006715484.1:p.Gln2555His
XM_006715422.1:c.7506G>C	XP_006715485.1:p.Gln2502His
XM_006715423.1:c.7665G>C	XP_006715486.1:p.Gln2555His
XM_006715424.1:c.7665G>C	XP_006715487.1:p.Gln2555His
XM_006715425.1:c.7665G>C	XP_006715488.1:p.Gln2555His
XM_011535641.1:c.7665G>C	XP_011533943.1:p.Gln2555His
XM_011535642.1:c.7665G>C	XP_011533944.1:p.Gln2555His
XM_011535643.1:c.7500G>C	XP_011533945.1:p.Gln2500His
XM_011535644.1:c.5940G>C	XP_011533946.1:p.Gln1980His
XM_011535645.1:c.5433G>C	XP_011533947.1:p.Gln1811His
XM_011535646.1:c.7665G>C	XP_011533948.1:p.Gln2555His
XM_011535647.1:c.900G>C	XP_011533949.1:p.Gln300His
XM_006715408.2:c.7665G>C	XP_006715471.1:p.Gln2555His
XM_006715410.2:c.7665G>C	XP_006715473.1:p.Gln2555His
XM_006715412.2:c.7665G>C	XP_006715475.1:p.Gln2555His
XM_006715413.2:c.7665G>C	XP_006715476.1:p.Gln2555His
XM_006715415.2:c.7665G>C	XP_006715478.1:p.Gln2555His
XM_006715416.2:c.7665G>C	XP_006715479.1:p.Gln2555His
XM_006715417.2:c.7665G>C	XP_006715480.1:p.Gln2555His
XM_006715420.2:c.7665G>C	XP_006715483.1:p.Gln2555His
XM_006715421.2:c.7665G>C	XP_006715484.1:p.Gln2555His
XM_006715423.2:c.7665G>C	XP_006715486.1:p.Gln2555His
XM_006715424.2:c.7665G>C	XP_006715487.1:p.Gln2555His
XM_006715425.2:c.7665G>C	XP_006715488.1:p.Gln2555His
XM_011535641.2:c.7665G>C	XP_011533943.1:p.Gln2555His
XM_011535642.2:c.7665G>C	XP_011533944.1:p.Gln2555His
XM_011535645.2:c.5433G>C	XP_011533947.1:p.Gln1811His
XM_017010608.1:c.7665G>C	XP_016866097.1:p.Gln2555His
XM_017010609.1:c.7665G>C	XP_016866098.1:p.Gln2555His
XM_017010610.1:c.7644G>C	XP_016866099.1:p.Gln2548His
XM_017010611.2:c.7638G>C	XP_016866100.1:p.Gln2546His
XM_017010612.1:c.7587G>C	XP_016866101.1:p.Gln2529His
XM_017010613.1:c.7665G>C	XP_016866102.1:p.Gln2555His
XM_017010614.1:c.7665G>C	XP_016866103.1:p.Gln2555His
XM_017010615.1:c.7665G>C	XP_016866104.1:p.Gln2555His
XM_017010616.1:c.7665G>C	XP_016866105.1:p.Gln2555His
XM_017010617.1:c.7665G>C	XP_016866106.1:p.Gln2555His
XM_017010618.1:c.7665G>C	XP_016866107.1:p.Gln2555His
XM_017010619.1:c.5940G>C	XP_016866108.1:p.Gln1980His
XR_001743287.1:n.8148G>C
NM_182961.4:c.7644G>C MANE Select	NP_892006.3:p.Gln2548His
NM_033071.5:c.7665G>C	NP_149062.2:p.Gln2555His