Canonical Allele Identifier: CA366099269

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213680-C-A
• MyVariant Identifiers: chr6:g.152534815C>A (hg19) ; chr6:g.152213680C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213680C>A , CM000668.2:g.152213680C>A	GRCh38
NC_000006.11:g.152534815C>A , CM000668.1:g.152534815C>A	GRCh37
NC_000006.10:g.152576508C>A	NCBI36
NG_012855.1:g.428720G>T
NG_012855.2:g.428720G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22426G>T MANE Select	ENSP00000356224.5:p.Glu7476Ter
ENST00000423061.6:c.22213G>T	ENSP00000396024.1:p.Glu7405Ter
ENST00000341594.9:c.21211G>T	ENSP00000341887.6:p.Glu7071Ter
ENST00000367251.7:c.1192G>T	ENSP00000356220.3:p.Glu398Ter
ENST00000367255.9:c.22426G>T	ENSP00000356224.5:p.Glu7476Ter
ENST00000367256.9:n.6118G>T
ENST00000367257.8:c.364G>T	ENSP00000356226.4:p.Glu122Ter
ENST00000409694.6:n.6010G>T
ENST00000423061.5:c.22213G>T	ENSP00000396024.1:p.Glu7405Ter
NM_033071.3:c.22213G>T	NP_149062.1:p.Glu7405Ter
NM_182961.3:c.22426G>T	NP_892006.3:p.Glu7476Ter
XM_006715407.1:c.22462G>T	XP_006715470.1:p.Glu7488Ter
XM_006715408.1:c.22450G>T	XP_006715471.1:p.Glu7484Ter
XM_006715409.1:c.22441G>T	XP_006715472.1:p.Glu7481Ter
XM_006715410.1:c.22462G>T	XP_006715473.1:p.Glu7488Ter
XM_006715411.1:c.22411G>T	XP_006715474.1:p.Glu7471Ter
XM_006715412.1:c.22447G>T	XP_006715475.1:p.Glu7483Ter
XM_006715413.1:c.22462G>T	XP_006715476.1:p.Glu7488Ter
XM_006715414.1:c.22390G>T	XP_006715477.1:p.Glu7464Ter
XM_006715415.1:c.22462G>T	XP_006715478.1:p.Glu7488Ter
XM_006715416.1:c.22447G>T	XP_006715479.1:p.Glu7483Ter
XM_006715417.1:c.22321G>T	XP_006715480.1:p.Glu7441Ter
XM_006715420.1:c.22309G>T	XP_006715483.1:p.Glu7437Ter
XM_006715421.1:c.22306G>T	XP_006715484.1:p.Glu7436Ter
XM_006715422.1:c.22303G>T	XP_006715485.1:p.Glu7435Ter
XM_006715423.1:c.22462G>T	XP_006715486.1:p.Glu7488Ter
XM_006715424.1:c.22462G>T	XP_006715487.1:p.Glu7488Ter
XM_006715425.1:c.22462G>T	XP_006715488.1:p.Glu7488Ter
XM_011535641.1:c.22459G>T	XP_011533943.1:p.Glu7487Ter
XM_011535642.1:c.22447G>T	XP_011533944.1:p.Glu7483Ter
XM_011535643.1:c.22297G>T	XP_011533945.1:p.Glu7433Ter
XM_011535644.1:c.20737G>T	XP_011533946.1:p.Glu6913Ter
XM_011535645.1:c.20230G>T	XP_011533947.1:p.Glu6744Ter
XM_011535647.1:c.15697G>T	XP_011533949.1:p.Glu5233Ter
XM_006715408.2:c.22450G>T	XP_006715471.1:p.Glu7484Ter
XM_006715410.2:c.22462G>T	XP_006715473.1:p.Glu7488Ter
XM_006715412.2:c.22447G>T	XP_006715475.1:p.Glu7483Ter
XM_006715413.2:c.22462G>T	XP_006715476.1:p.Glu7488Ter
XM_006715415.2:c.22462G>T	XP_006715478.1:p.Glu7488Ter
XM_006715416.2:c.22447G>T	XP_006715479.1:p.Glu7483Ter
XM_006715417.2:c.22321G>T	XP_006715480.1:p.Glu7441Ter
XM_006715420.2:c.22309G>T	XP_006715483.1:p.Glu7437Ter
XM_006715421.2:c.22306G>T	XP_006715484.1:p.Glu7436Ter
XM_006715423.2:c.22462G>T	XP_006715486.1:p.Glu7488Ter
XM_006715424.2:c.22462G>T	XP_006715487.1:p.Glu7488Ter
XM_006715425.2:c.22462G>T	XP_006715488.1:p.Glu7488Ter
XM_011535641.2:c.22459G>T	XP_011533943.1:p.Glu7487Ter
XM_011535642.2:c.22447G>T	XP_011533944.1:p.Glu7483Ter
XM_011535645.2:c.20230G>T	XP_011533947.1:p.Glu6744Ter
XM_017010608.1:c.22462G>T	XP_016866097.1:p.Glu7488Ter
XM_017010609.1:c.22462G>T	XP_016866098.1:p.Glu7488Ter
XM_017010610.1:c.22441G>T	XP_016866099.1:p.Glu7481Ter
XM_017010611.2:c.22435G>T	XP_016866100.1:p.Glu7479Ter
XM_017010612.1:c.22384G>T	XP_016866101.1:p.Glu7462Ter
XM_017010613.1:c.22459G>T	XP_016866102.1:p.Glu7487Ter
XM_017010614.1:c.22306G>T	XP_016866103.1:p.Glu7436Ter
XM_017010615.1:c.22306G>T	XP_016866104.1:p.Glu7436Ter
XM_017010616.1:c.22462G>T	XP_016866105.1:p.Glu7488Ter
XM_017010617.1:c.22459G>T	XP_016866106.1:p.Glu7487Ter
XM_017010618.1:c.22447G>T	XP_016866107.1:p.Glu7483Ter
XM_017010619.1:c.20737G>T	XP_016866108.1:p.Glu6913Ter
NM_182961.4:c.22426G>T MANE Select	NP_892006.3:p.Glu7476Ter
NM_033071.5:c.22213G>T	NP_149062.2:p.Glu7405Ter