Canonical Allele Identifier: CA366103193

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152621787A>G (hg19) ; chr6:g.152300652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152300652A>G , CM000668.2:g.152300652A>G	GRCh38
NC_000006.11:g.152621787A>G , CM000668.1:g.152621787A>G	GRCh37
NC_000006.10:g.152663480A>G	NCBI36
NG_012855.1:g.341748T>C
NG_012855.2:g.341748T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.17671T>C MANE Select	ENSP00000356224.5:p.Ser5891Pro
ENST00000423061.6:c.17458T>C	ENSP00000396024.1:p.Ser5820Pro
ENST00000341594.9:c.16456T>C	ENSP00000341887.6:p.Ser5486Pro
ENST00000367255.9:c.17671T>C	ENSP00000356224.5:p.Ser5891Pro
ENST00000367256.9:n.1363T>C
ENST00000409694.6:n.1255T>C
ENST00000423061.5:c.17458T>C	ENSP00000396024.1:p.Ser5820Pro
ENST00000489156.1:n.401+1217T>C
ENST00000537033.1:c.337T>C	ENSP00000443879.1:p.Ser113Pro
ENST00000540663.5:c.207+1217T>C	ENSP00000437411.1:n.207+1217T>C
NM_033071.3:c.17458T>C	NP_149062.1:p.Ser5820Pro
NM_182961.3:c.17671T>C	NP_892006.3:p.Ser5891Pro
XM_006715407.1:c.17692T>C	XP_006715470.1:p.Ser5898Pro
XM_006715408.1:c.17692T>C	XP_006715471.1:p.Ser5898Pro
XM_006715409.1:c.17671T>C	XP_006715472.1:p.Ser5891Pro
XM_006715410.1:c.17692T>C	XP_006715473.1:p.Ser5898Pro
XM_006715411.1:c.17641T>C	XP_006715474.1:p.Ser5881Pro
XM_006715412.1:c.17692T>C	XP_006715475.1:p.Ser5898Pro
XM_006715413.1:c.17692T>C	XP_006715476.1:p.Ser5898Pro
XM_006715414.1:c.17620T>C	XP_006715477.1:p.Ser5874Pro
XM_006715415.1:c.17692T>C	XP_006715478.1:p.Ser5898Pro
XM_006715416.1:c.17692T>C	XP_006715479.1:p.Ser5898Pro
XM_006715417.1:c.17562+1217T>C	XP_006715480.1:n.17562+1217T>C
XM_006715420.1:c.17562+1217T>C	XP_006715483.1:n.17562+1217T>C
XM_006715421.1:c.17536T>C	XP_006715484.1:p.Ser5846Pro
XM_006715422.1:c.17533T>C	XP_006715485.1:p.Ser5845Pro
XM_006715423.1:c.17692T>C	XP_006715486.1:p.Ser5898Pro
XM_006715424.1:c.17692T>C	XP_006715487.1:p.Ser5898Pro
XM_006715425.1:c.17692T>C	XP_006715488.1:p.Ser5898Pro
XM_011535641.1:c.17692T>C	XP_011533943.1:p.Ser5898Pro
XM_011535642.1:c.17692T>C	XP_011533944.1:p.Ser5898Pro
XM_011535643.1:c.17527T>C	XP_011533945.1:p.Ser5843Pro
XM_011535644.1:c.15967T>C	XP_011533946.1:p.Ser5323Pro
XM_011535645.1:c.15460T>C	XP_011533947.1:p.Ser5154Pro
XM_011535646.1:c.17692T>C	XP_011533948.1:p.Ser5898Pro
XM_011535647.1:c.10927T>C	XP_011533949.1:p.Ser3643Pro
XM_006715408.2:c.17692T>C	XP_006715471.1:p.Ser5898Pro
XM_006715410.2:c.17692T>C	XP_006715473.1:p.Ser5898Pro
XM_006715412.2:c.17692T>C	XP_006715475.1:p.Ser5898Pro
XM_006715413.2:c.17692T>C	XP_006715476.1:p.Ser5898Pro
XM_006715415.2:c.17692T>C	XP_006715478.1:p.Ser5898Pro
XM_006715416.2:c.17692T>C	XP_006715479.1:p.Ser5898Pro
XM_006715417.2:c.17562+1217T>C	XP_006715480.1:n.17562+1217T>C
XM_006715420.2:c.17562+1217T>C	XP_006715483.1:n.17562+1217T>C
XM_006715421.2:c.17536T>C	XP_006715484.1:p.Ser5846Pro
XM_006715423.2:c.17692T>C	XP_006715486.1:p.Ser5898Pro
XM_006715424.2:c.17692T>C	XP_006715487.1:p.Ser5898Pro
XM_006715425.2:c.17692T>C	XP_006715488.1:p.Ser5898Pro
XM_011535641.2:c.17692T>C	XP_011533943.1:p.Ser5898Pro
XM_011535642.2:c.17692T>C	XP_011533944.1:p.Ser5898Pro
XM_011535645.2:c.15460T>C	XP_011533947.1:p.Ser5154Pro
XM_017010608.1:c.17692T>C	XP_016866097.1:p.Ser5898Pro
XM_017010609.1:c.17692T>C	XP_016866098.1:p.Ser5898Pro
XM_017010610.1:c.17671T>C	XP_016866099.1:p.Ser5891Pro
XM_017010611.2:c.17665T>C	XP_016866100.1:p.Ser5889Pro
XM_017010612.1:c.17614T>C	XP_016866101.1:p.Ser5872Pro
XM_017010613.1:c.17692T>C	XP_016866102.1:p.Ser5898Pro
XM_017010614.1:c.17562+1217T>C	XP_016866103.1:n.17562+1217T>C
XM_017010615.1:c.17562+1217T>C	XP_016866104.1:n.17562+1217T>C
XM_017010616.1:c.17692T>C	XP_016866105.1:p.Ser5898Pro
XM_017010617.1:c.17692T>C	XP_016866106.1:p.Ser5898Pro
XM_017010618.1:c.17692T>C	XP_016866107.1:p.Ser5898Pro
XM_017010619.1:c.15967T>C	XP_016866108.1:p.Ser5323Pro
XR_001743287.1:n.18175T>C
NM_182961.4:c.17671T>C MANE Select	NP_892006.3:p.Ser5891Pro
NM_033071.5:c.17458T>C	NP_149062.2:p.Ser5820Pro