Canonical Allele Identifier: CA366091091

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 522959
• ClinVar RCV Id: RCV000626156
• dbSNP Id: rs1554451078
• MyVariant Identifiers: chr6:g.152646309C>T (hg19) ; chr6:g.152325174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152325174C>T , CM000668.2:g.152325174C>T	GRCh38
NC_000006.11:g.152646309C>T , CM000668.1:g.152646309C>T	GRCh37
NC_000006.10:g.152688002C>T	NCBI36
NG_012855.1:g.317226G>A
NG_012855.2:g.317226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.15567G>A MANE Select	ENSP00000356224.5:p.Trp5189Ter
ENST00000423061.6:c.15354G>A	ENSP00000396024.1:p.Trp5118Ter
ENST00000341594.9:c.14595G>A	ENSP00000341887.6:p.Trp4865Ter
ENST00000367255.9:c.15567G>A	ENSP00000356224.5:p.Trp5189Ter
ENST00000423061.5:c.15354G>A	ENSP00000396024.1:p.Trp5118Ter
ENST00000448038.2:c.-352G>A	ENSP00000390975.2:n.-352G>A
ENST00000490135.6:n.2913G>A
NM_033071.3:c.15354G>A	NP_149062.1:p.Trp5118Ter
NM_182961.3:c.15567G>A	NP_892006.3:p.Trp5189Ter
XM_006715407.1:c.15588G>A	XP_006715470.1:p.Trp5196Ter
XM_006715408.1:c.15588G>A	XP_006715471.1:p.Trp5196Ter
XM_006715409.1:c.15567G>A	XP_006715472.1:p.Trp5189Ter
XM_006715410.1:c.15588G>A	XP_006715473.1:p.Trp5196Ter
XM_006715411.1:c.15537G>A	XP_006715474.1:p.Trp5179Ter
XM_006715412.1:c.15588G>A	XP_006715475.1:p.Trp5196Ter
XM_006715413.1:c.15588G>A	XP_006715476.1:p.Trp5196Ter
XM_006715414.1:c.15516G>A	XP_006715477.1:p.Trp5172Ter
XM_006715415.1:c.15588G>A	XP_006715478.1:p.Trp5196Ter
XM_006715416.1:c.15588G>A	XP_006715479.1:p.Trp5196Ter
XM_006715417.1:c.15588G>A	XP_006715480.1:p.Trp5196Ter
XM_006715420.1:c.15588G>A	XP_006715483.1:p.Trp5196Ter
XM_006715421.1:c.15432G>A	XP_006715484.1:p.Trp5144Ter
XM_006715422.1:c.15429G>A	XP_006715485.1:p.Trp5143Ter
XM_006715423.1:c.15588G>A	XP_006715486.1:p.Trp5196Ter
XM_006715424.1:c.15588G>A	XP_006715487.1:p.Trp5196Ter
XM_006715425.1:c.15588G>A	XP_006715488.1:p.Trp5196Ter
XM_011535641.1:c.15588G>A	XP_011533943.1:p.Trp5196Ter
XM_011535642.1:c.15588G>A	XP_011533944.1:p.Trp5196Ter
XM_011535643.1:c.15423G>A	XP_011533945.1:p.Trp5141Ter
XM_011535644.1:c.13863G>A	XP_011533946.1:p.Trp4621Ter
XM_011535645.1:c.13356G>A	XP_011533947.1:p.Trp4452Ter
XM_011535646.1:c.15588G>A	XP_011533948.1:p.Trp5196Ter
XM_011535647.1:c.8823G>A	XP_011533949.1:p.Trp2941Ter
XM_006715408.2:c.15588G>A	XP_006715471.1:p.Trp5196Ter
XM_006715410.2:c.15588G>A	XP_006715473.1:p.Trp5196Ter
XM_006715412.2:c.15588G>A	XP_006715475.1:p.Trp5196Ter
XM_006715413.2:c.15588G>A	XP_006715476.1:p.Trp5196Ter
XM_006715415.2:c.15588G>A	XP_006715478.1:p.Trp5196Ter
XM_006715416.2:c.15588G>A	XP_006715479.1:p.Trp5196Ter
XM_006715417.2:c.15588G>A	XP_006715480.1:p.Trp5196Ter
XM_006715420.2:c.15588G>A	XP_006715483.1:p.Trp5196Ter
XM_006715421.2:c.15432G>A	XP_006715484.1:p.Trp5144Ter
XM_006715423.2:c.15588G>A	XP_006715486.1:p.Trp5196Ter
XM_006715424.2:c.15588G>A	XP_006715487.1:p.Trp5196Ter
XM_006715425.2:c.15588G>A	XP_006715488.1:p.Trp5196Ter
XM_011535641.2:c.15588G>A	XP_011533943.1:p.Trp5196Ter
XM_011535642.2:c.15588G>A	XP_011533944.1:p.Trp5196Ter
XM_011535645.2:c.13356G>A	XP_011533947.1:p.Trp4452Ter
XM_017010608.1:c.15588G>A	XP_016866097.1:p.Trp5196Ter
XM_017010609.1:c.15588G>A	XP_016866098.1:p.Trp5196Ter
XM_017010610.1:c.15567G>A	XP_016866099.1:p.Trp5189Ter
XM_017010611.2:c.15561G>A	XP_016866100.1:p.Trp5187Ter
XM_017010612.1:c.15510G>A	XP_016866101.1:p.Trp5170Ter
XM_017010613.1:c.15588G>A	XP_016866102.1:p.Trp5196Ter
XM_017010614.1:c.15588G>A	XP_016866103.1:p.Trp5196Ter
XM_017010615.1:c.15588G>A	XP_016866104.1:p.Trp5196Ter
XM_017010616.1:c.15588G>A	XP_016866105.1:p.Trp5196Ter
XM_017010617.1:c.15588G>A	XP_016866106.1:p.Trp5196Ter
XM_017010618.1:c.15588G>A	XP_016866107.1:p.Trp5196Ter
XM_017010619.1:c.13863G>A	XP_016866108.1:p.Trp4621Ter
XR_001743287.1:n.16071G>A
NM_182961.4:c.15567G>A MANE Select	NP_892006.3:p.Trp5189Ter
NM_033071.5:c.15354G>A	NP_149062.2:p.Trp5118Ter