Canonical Allele Identifier: CA366103299

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152300675G>T , CM000668.2:g.152300675G>T	GRCh38
NC_000006.11:g.152621810G>T , CM000668.1:g.152621810G>T	GRCh37
NC_000006.10:g.152663503G>T	NCBI36
NG_012855.1:g.341725C>A
NG_012855.2:g.341725C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.17648C>A MANE Select	NP_892006.3:p.Ser5883Ter
ENST00000367255.10:c.17648C>A MANE Select	ENSP00000356224.5:p.Ser5883Ter
NM_033071.3:c.17435C>A	NP_149062.1:p.Ser5812Ter
NM_033071.5:c.17435C>A	NP_149062.2:p.Ser5812Ter
NM_182961.3:c.17648C>A	NP_892006.3:p.Ser5883Ter
ENST00000341594.9:c.16433C>A	ENSP00000341887.6:p.Ser5478Ter
ENST00000367255.9:c.17648C>A	ENSP00000356224.5:p.Ser5883Ter
ENST00000367256.9:n.1340C>A
ENST00000409694.6:n.1232C>A
ENST00000423061.5:c.17435C>A	ENSP00000396024.1:p.Ser5812Ter
ENST00000423061.6:c.17435C>A	ENSP00000396024.1:p.Ser5812Ter
ENST00000489156.1:n.401+1194C>A
ENST00000537033.1:c.314C>A	ENSP00000443879.1:p.Ser105Ter
ENST00000540663.5:c.207+1194C>A	ENSP00000437411.1:n.207+1194C>A
XM_006715407.1:c.17669C>A	XP_006715470.1:p.Ser5890Ter
XM_006715408.1:c.17669C>A	XP_006715471.1:p.Ser5890Ter
XM_006715408.2:c.17669C>A	XP_006715471.1:p.Ser5890Ter
XM_006715409.1:c.17648C>A	XP_006715472.1:p.Ser5883Ter
XM_006715410.1:c.17669C>A	XP_006715473.1:p.Ser5890Ter
XM_006715410.2:c.17669C>A	XP_006715473.1:p.Ser5890Ter
XM_006715411.1:c.17618C>A	XP_006715474.1:p.Ser5873Ter
XM_006715412.1:c.17669C>A	XP_006715475.1:p.Ser5890Ter
XM_006715412.2:c.17669C>A	XP_006715475.1:p.Ser5890Ter
XM_006715413.1:c.17669C>A	XP_006715476.1:p.Ser5890Ter
XM_006715413.2:c.17669C>A	XP_006715476.1:p.Ser5890Ter
XM_006715414.1:c.17597C>A	XP_006715477.1:p.Ser5866Ter
XM_006715415.1:c.17669C>A	XP_006715478.1:p.Ser5890Ter
XM_006715415.2:c.17669C>A	XP_006715478.1:p.Ser5890Ter
XM_006715416.1:c.17669C>A	XP_006715479.1:p.Ser5890Ter
XM_006715416.2:c.17669C>A	XP_006715479.1:p.Ser5890Ter
XM_006715417.1:c.17562+1194C>A	XP_006715480.1:n.17562+1194C>A
XM_006715417.2:c.17562+1194C>A	XP_006715480.1:n.17562+1194C>A
XM_006715420.1:c.17562+1194C>A	XP_006715483.1:n.17562+1194C>A
XM_006715420.2:c.17562+1194C>A	XP_006715483.1:n.17562+1194C>A
XM_006715421.1:c.17513C>A	XP_006715484.1:p.Ser5838Ter
XM_006715421.2:c.17513C>A	XP_006715484.1:p.Ser5838Ter
XM_006715422.1:c.17510C>A	XP_006715485.1:p.Ser5837Ter
XM_006715423.1:c.17669C>A	XP_006715486.1:p.Ser5890Ter
XM_006715423.2:c.17669C>A	XP_006715486.1:p.Ser5890Ter
XM_006715424.1:c.17669C>A	XP_006715487.1:p.Ser5890Ter
XM_006715424.2:c.17669C>A	XP_006715487.1:p.Ser5890Ter
XM_006715425.1:c.17669C>A	XP_006715488.1:p.Ser5890Ter
XM_006715425.2:c.17669C>A	XP_006715488.1:p.Ser5890Ter
XM_011535641.1:c.17669C>A	XP_011533943.1:p.Ser5890Ter
XM_011535641.2:c.17669C>A	XP_011533943.1:p.Ser5890Ter
XM_011535642.1:c.17669C>A	XP_011533944.1:p.Ser5890Ter
XM_011535642.2:c.17669C>A	XP_011533944.1:p.Ser5890Ter
XM_011535643.1:c.17504C>A	XP_011533945.1:p.Ser5835Ter
XM_011535644.1:c.15944C>A	XP_011533946.1:p.Ser5315Ter
XM_011535645.1:c.15437C>A	XP_011533947.1:p.Ser5146Ter
XM_011535645.2:c.15437C>A	XP_011533947.1:p.Ser5146Ter
XM_011535646.1:c.17669C>A	XP_011533948.1:p.Ser5890Ter
XM_011535647.1:c.10904C>A	XP_011533949.1:p.Ser3635Ter
XM_017010608.1:c.17669C>A	XP_016866097.1:p.Ser5890Ter
XM_017010609.1:c.17669C>A	XP_016866098.1:p.Ser5890Ter
XM_017010610.1:c.17648C>A	XP_016866099.1:p.Ser5883Ter
XM_017010611.2:c.17642C>A	XP_016866100.1:p.Ser5881Ter
XM_017010612.1:c.17591C>A	XP_016866101.1:p.Ser5864Ter
XM_017010613.1:c.17669C>A	XP_016866102.1:p.Ser5890Ter
XM_017010614.1:c.17562+1194C>A	XP_016866103.1:n.17562+1194C>A
XM_017010615.1:c.17562+1194C>A	XP_016866104.1:n.17562+1194C>A
XM_017010616.1:c.17669C>A	XP_016866105.1:p.Ser5890Ter
XM_017010617.1:c.17669C>A	XP_016866106.1:p.Ser5890Ter
XM_017010618.1:c.17669C>A	XP_016866107.1:p.Ser5890Ter
XM_017010619.1:c.15944C>A	XP_016866108.1:p.Ser5315Ter
XR_001743287.1:n.18152C>A