Canonical Allele Identifier: CA366099266

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534814T>G (hg19) ; chr6:g.152213679T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213679T>G , CM000668.2:g.152213679T>G	GRCh38
NC_000006.11:g.152534814T>G , CM000668.1:g.152534814T>G	GRCh37
NC_000006.10:g.152576507T>G	NCBI36
NG_012855.1:g.428721A>C
NG_012855.2:g.428721A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22427A>C MANE Select	ENSP00000356224.5:p.Glu7476Ala
ENST00000423061.6:c.22214A>C	ENSP00000396024.1:p.Glu7405Ala
ENST00000341594.9:c.21212A>C	ENSP00000341887.6:p.Glu7071Ala
ENST00000367251.7:c.1193A>C	ENSP00000356220.3:p.Glu398Ala
ENST00000367255.9:c.22427A>C	ENSP00000356224.5:p.Glu7476Ala
ENST00000367256.9:n.6119A>C
ENST00000367257.8:c.365A>C	ENSP00000356226.4:p.Glu122Ala
ENST00000409694.6:n.6011A>C
ENST00000423061.5:c.22214A>C	ENSP00000396024.1:p.Glu7405Ala
NM_033071.3:c.22214A>C	NP_149062.1:p.Glu7405Ala
NM_182961.3:c.22427A>C	NP_892006.3:p.Glu7476Ala
XM_006715407.1:c.22463A>C	XP_006715470.1:p.Glu7488Ala
XM_006715408.1:c.22451A>C	XP_006715471.1:p.Glu7484Ala
XM_006715409.1:c.22442A>C	XP_006715472.1:p.Glu7481Ala
XM_006715410.1:c.22463A>C	XP_006715473.1:p.Glu7488Ala
XM_006715411.1:c.22412A>C	XP_006715474.1:p.Glu7471Ala
XM_006715412.1:c.22448A>C	XP_006715475.1:p.Glu7483Ala
XM_006715413.1:c.22463A>C	XP_006715476.1:p.Glu7488Ala
XM_006715414.1:c.22391A>C	XP_006715477.1:p.Glu7464Ala
XM_006715415.1:c.22463A>C	XP_006715478.1:p.Glu7488Ala
XM_006715416.1:c.22448A>C	XP_006715479.1:p.Glu7483Ala
XM_006715417.1:c.22322A>C	XP_006715480.1:p.Glu7441Ala
XM_006715420.1:c.22310A>C	XP_006715483.1:p.Glu7437Ala
XM_006715421.1:c.22307A>C	XP_006715484.1:p.Glu7436Ala
XM_006715422.1:c.22304A>C	XP_006715485.1:p.Glu7435Ala
XM_006715423.1:c.22463A>C	XP_006715486.1:p.Glu7488Ala
XM_006715424.1:c.22463A>C	XP_006715487.1:p.Glu7488Ala
XM_006715425.1:c.22463A>C	XP_006715488.1:p.Glu7488Ala
XM_011535641.1:c.22460A>C	XP_011533943.1:p.Glu7487Ala
XM_011535642.1:c.22448A>C	XP_011533944.1:p.Glu7483Ala
XM_011535643.1:c.22298A>C	XP_011533945.1:p.Glu7433Ala
XM_011535644.1:c.20738A>C	XP_011533946.1:p.Glu6913Ala
XM_011535645.1:c.20231A>C	XP_011533947.1:p.Glu6744Ala
XM_011535647.1:c.15698A>C	XP_011533949.1:p.Glu5233Ala
XM_006715408.2:c.22451A>C	XP_006715471.1:p.Glu7484Ala
XM_006715410.2:c.22463A>C	XP_006715473.1:p.Glu7488Ala
XM_006715412.2:c.22448A>C	XP_006715475.1:p.Glu7483Ala
XM_006715413.2:c.22463A>C	XP_006715476.1:p.Glu7488Ala
XM_006715415.2:c.22463A>C	XP_006715478.1:p.Glu7488Ala
XM_006715416.2:c.22448A>C	XP_006715479.1:p.Glu7483Ala
XM_006715417.2:c.22322A>C	XP_006715480.1:p.Glu7441Ala
XM_006715420.2:c.22310A>C	XP_006715483.1:p.Glu7437Ala
XM_006715421.2:c.22307A>C	XP_006715484.1:p.Glu7436Ala
XM_006715423.2:c.22463A>C	XP_006715486.1:p.Glu7488Ala
XM_006715424.2:c.22463A>C	XP_006715487.1:p.Glu7488Ala
XM_006715425.2:c.22463A>C	XP_006715488.1:p.Glu7488Ala
XM_011535641.2:c.22460A>C	XP_011533943.1:p.Glu7487Ala
XM_011535642.2:c.22448A>C	XP_011533944.1:p.Glu7483Ala
XM_011535645.2:c.20231A>C	XP_011533947.1:p.Glu6744Ala
XM_017010608.1:c.22463A>C	XP_016866097.1:p.Glu7488Ala
XM_017010609.1:c.22463A>C	XP_016866098.1:p.Glu7488Ala
XM_017010610.1:c.22442A>C	XP_016866099.1:p.Glu7481Ala
XM_017010611.2:c.22436A>C	XP_016866100.1:p.Glu7479Ala
XM_017010612.1:c.22385A>C	XP_016866101.1:p.Glu7462Ala
XM_017010613.1:c.22460A>C	XP_016866102.1:p.Glu7487Ala
XM_017010614.1:c.22307A>C	XP_016866103.1:p.Glu7436Ala
XM_017010615.1:c.22307A>C	XP_016866104.1:p.Glu7436Ala
XM_017010616.1:c.22463A>C	XP_016866105.1:p.Glu7488Ala
XM_017010617.1:c.22460A>C	XP_016866106.1:p.Glu7487Ala
XM_017010618.1:c.22448A>C	XP_016866107.1:p.Glu7483Ala
XM_017010619.1:c.20738A>C	XP_016866108.1:p.Glu6913Ala
NM_182961.4:c.22427A>C MANE Select	NP_892006.3:p.Glu7476Ala
NM_033071.5:c.22214A>C	NP_149062.2:p.Glu7405Ala