Canonical Allele Identifier: CA366103199

Gene: SYNE1

Linked Data

• COSMIC: COSM4408081 ; COSM4408082 ; COSM4408083 ; COSM4408084 ; COSM4408085
• MyVariant Identifiers: chr6:g.152621789G>A (hg19) ; chr6:g.152300654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152300654G>A , CM000668.2:g.152300654G>A	GRCh38
NC_000006.11:g.152621789G>A , CM000668.1:g.152621789G>A	GRCh37
NC_000006.10:g.152663482G>A	NCBI36
NG_012855.1:g.341746C>T
NG_012855.2:g.341746C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.17669C>T MANE Select	ENSP00000356224.5:p.Ala5890Val
ENST00000423061.6:c.17456C>T	ENSP00000396024.1:p.Ala5819Val
ENST00000341594.9:c.16454C>T	ENSP00000341887.6:p.Ala5485Val
ENST00000367255.9:c.17669C>T	ENSP00000356224.5:p.Ala5890Val
ENST00000367256.9:n.1361C>T
ENST00000409694.6:n.1253C>T
ENST00000423061.5:c.17456C>T	ENSP00000396024.1:p.Ala5819Val
ENST00000489156.1:n.401+1215C>T
ENST00000537033.1:c.335C>T	ENSP00000443879.1:p.Ala112Val
ENST00000540663.5:c.207+1215C>T	ENSP00000437411.1:n.207+1215C>T
NM_033071.3:c.17456C>T	NP_149062.1:p.Ala5819Val
NM_182961.3:c.17669C>T	NP_892006.3:p.Ala5890Val
XM_006715407.1:c.17690C>T	XP_006715470.1:p.Ala5897Val
XM_006715408.1:c.17690C>T	XP_006715471.1:p.Ala5897Val
XM_006715409.1:c.17669C>T	XP_006715472.1:p.Ala5890Val
XM_006715410.1:c.17690C>T	XP_006715473.1:p.Ala5897Val
XM_006715411.1:c.17639C>T	XP_006715474.1:p.Ala5880Val
XM_006715412.1:c.17690C>T	XP_006715475.1:p.Ala5897Val
XM_006715413.1:c.17690C>T	XP_006715476.1:p.Ala5897Val
XM_006715414.1:c.17618C>T	XP_006715477.1:p.Ala5873Val
XM_006715415.1:c.17690C>T	XP_006715478.1:p.Ala5897Val
XM_006715416.1:c.17690C>T	XP_006715479.1:p.Ala5897Val
XM_006715417.1:c.17562+1215C>T	XP_006715480.1:n.17562+1215C>T
XM_006715420.1:c.17562+1215C>T	XP_006715483.1:n.17562+1215C>T
XM_006715421.1:c.17534C>T	XP_006715484.1:p.Ala5845Val
XM_006715422.1:c.17531C>T	XP_006715485.1:p.Ala5844Val
XM_006715423.1:c.17690C>T	XP_006715486.1:p.Ala5897Val
XM_006715424.1:c.17690C>T	XP_006715487.1:p.Ala5897Val
XM_006715425.1:c.17690C>T	XP_006715488.1:p.Ala5897Val
XM_011535641.1:c.17690C>T	XP_011533943.1:p.Ala5897Val
XM_011535642.1:c.17690C>T	XP_011533944.1:p.Ala5897Val
XM_011535643.1:c.17525C>T	XP_011533945.1:p.Ala5842Val
XM_011535644.1:c.15965C>T	XP_011533946.1:p.Ala5322Val
XM_011535645.1:c.15458C>T	XP_011533947.1:p.Ala5153Val
XM_011535646.1:c.17690C>T	XP_011533948.1:p.Ala5897Val
XM_011535647.1:c.10925C>T	XP_011533949.1:p.Ala3642Val
XM_006715408.2:c.17690C>T	XP_006715471.1:p.Ala5897Val
XM_006715410.2:c.17690C>T	XP_006715473.1:p.Ala5897Val
XM_006715412.2:c.17690C>T	XP_006715475.1:p.Ala5897Val
XM_006715413.2:c.17690C>T	XP_006715476.1:p.Ala5897Val
XM_006715415.2:c.17690C>T	XP_006715478.1:p.Ala5897Val
XM_006715416.2:c.17690C>T	XP_006715479.1:p.Ala5897Val
XM_006715417.2:c.17562+1215C>T	XP_006715480.1:n.17562+1215C>T
XM_006715420.2:c.17562+1215C>T	XP_006715483.1:n.17562+1215C>T
XM_006715421.2:c.17534C>T	XP_006715484.1:p.Ala5845Val
XM_006715423.2:c.17690C>T	XP_006715486.1:p.Ala5897Val
XM_006715424.2:c.17690C>T	XP_006715487.1:p.Ala5897Val
XM_006715425.2:c.17690C>T	XP_006715488.1:p.Ala5897Val
XM_011535641.2:c.17690C>T	XP_011533943.1:p.Ala5897Val
XM_011535642.2:c.17690C>T	XP_011533944.1:p.Ala5897Val
XM_011535645.2:c.15458C>T	XP_011533947.1:p.Ala5153Val
XM_017010608.1:c.17690C>T	XP_016866097.1:p.Ala5897Val
XM_017010609.1:c.17690C>T	XP_016866098.1:p.Ala5897Val
XM_017010610.1:c.17669C>T	XP_016866099.1:p.Ala5890Val
XM_017010611.2:c.17663C>T	XP_016866100.1:p.Ala5888Val
XM_017010612.1:c.17612C>T	XP_016866101.1:p.Ala5871Val
XM_017010613.1:c.17690C>T	XP_016866102.1:p.Ala5897Val
XM_017010614.1:c.17562+1215C>T	XP_016866103.1:n.17562+1215C>T
XM_017010615.1:c.17562+1215C>T	XP_016866104.1:n.17562+1215C>T
XM_017010616.1:c.17690C>T	XP_016866105.1:p.Ala5897Val
XM_017010617.1:c.17690C>T	XP_016866106.1:p.Ala5897Val
XM_017010618.1:c.17690C>T	XP_016866107.1:p.Ala5897Val
XM_017010619.1:c.15965C>T	XP_016866108.1:p.Ala5322Val
XR_001743287.1:n.18173C>T
NM_182961.4:c.17669C>T MANE Select	NP_892006.3:p.Ala5890Val
NM_033071.5:c.17456C>T	NP_149062.2:p.Ala5819Val