Canonical Allele Identifier: CA4054023

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152219165G>T , CM000668.2:g.152219165G>T	GRCh38
NC_000006.11:g.152540300G>T , CM000668.1:g.152540300G>T	GRCh37
NC_000006.10:g.152581993G>T	NCBI36
NG_012855.1:g.423235C>A
NG_012855.2:g.423235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.21882C>A MANE Select	ENSP00000356224.5:p.Gly7294=
ENST00000423061.6:c.21669C>A	ENSP00000396024.1:p.Gly7223=
ENST00000341594.9:c.20667C>A	ENSP00000341887.6:p.Gly6889=
ENST00000367251.7:c.648C>A	ENSP00000356220.3:p.Gly216=
ENST00000367255.9:c.21882C>A	ENSP00000356224.5:p.Gly7294=
ENST00000367256.9:n.5574C>A
ENST00000409694.6:n.5466C>A
ENST00000423061.5:c.21669C>A	ENSP00000396024.1:p.Gly7223=
NM_033071.3:c.21669C>A	NP_149062.1:p.Gly7223=
NM_182961.3:c.21882C>A	NP_892006.3:p.Gly7294=
XM_006715407.1:c.21918C>A	XP_006715470.1:p.Gly7306=
XM_006715408.1:c.21906C>A	XP_006715471.1:p.Gly7302=
XM_006715409.1:c.21897C>A	XP_006715472.1:p.Gly7299=
XM_006715410.1:c.21918C>A	XP_006715473.1:p.Gly7306=
XM_006715411.1:c.21867C>A	XP_006715474.1:p.Gly7289=
XM_006715412.1:c.21903C>A	XP_006715475.1:p.Gly7301=
XM_006715413.1:c.21918C>A	XP_006715476.1:p.Gly7306=
XM_006715414.1:c.21846C>A	XP_006715477.1:p.Gly7282=
XM_006715415.1:c.21918C>A	XP_006715478.1:p.Gly7306=
XM_006715416.1:c.21903C>A	XP_006715479.1:p.Gly7301=
XM_006715417.1:c.21777C>A	XP_006715480.1:p.Gly7259=
XM_006715420.1:c.21765C>A	XP_006715483.1:p.Gly7255=
XM_006715421.1:c.21762C>A	XP_006715484.1:p.Gly7254=
XM_006715422.1:c.21759C>A	XP_006715485.1:p.Gly7253=
XM_006715423.1:c.21918C>A	XP_006715486.1:p.Gly7306=
XM_006715424.1:c.21918C>A	XP_006715487.1:p.Gly7306=
XM_006715425.1:c.21918C>A	XP_006715488.1:p.Gly7306=
XM_011535641.1:c.21915C>A	XP_011533943.1:p.Gly7305=
XM_011535642.1:c.21903C>A	XP_011533944.1:p.Gly7301=
XM_011535643.1:c.21753C>A	XP_011533945.1:p.Gly7251=
XM_011535644.1:c.20193C>A	XP_011533946.1:p.Gly6731=
XM_011535645.1:c.19686C>A	XP_011533947.1:p.Gly6562=
XM_011535647.1:c.15153C>A	XP_011533949.1:p.Gly5051=
XM_006715408.2:c.21906C>A	XP_006715471.1:p.Gly7302=
XM_006715410.2:c.21918C>A	XP_006715473.1:p.Gly7306=
XM_006715412.2:c.21903C>A	XP_006715475.1:p.Gly7301=
XM_006715413.2:c.21918C>A	XP_006715476.1:p.Gly7306=
XM_006715415.2:c.21918C>A	XP_006715478.1:p.Gly7306=
XM_006715416.2:c.21903C>A	XP_006715479.1:p.Gly7301=
XM_006715417.2:c.21777C>A	XP_006715480.1:p.Gly7259=
XM_006715420.2:c.21765C>A	XP_006715483.1:p.Gly7255=
XM_006715421.2:c.21762C>A	XP_006715484.1:p.Gly7254=
XM_006715423.2:c.21918C>A	XP_006715486.1:p.Gly7306=
XM_006715424.2:c.21918C>A	XP_006715487.1:p.Gly7306=
XM_006715425.2:c.21918C>A	XP_006715488.1:p.Gly7306=
XM_011535641.2:c.21915C>A	XP_011533943.1:p.Gly7305=
XM_011535642.2:c.21903C>A	XP_011533944.1:p.Gly7301=
XM_011535645.2:c.19686C>A	XP_011533947.1:p.Gly6562=
XM_017010608.1:c.21918C>A	XP_016866097.1:p.Gly7306=
XM_017010609.1:c.21918C>A	XP_016866098.1:p.Gly7306=
XM_017010610.1:c.21897C>A	XP_016866099.1:p.Gly7299=
XM_017010611.2:c.21891C>A	XP_016866100.1:p.Gly7297=
XM_017010612.1:c.21840C>A	XP_016866101.1:p.Gly7280=
XM_017010613.1:c.21915C>A	XP_016866102.1:p.Gly7305=
XM_017010614.1:c.21762C>A	XP_016866103.1:p.Gly7254=
XM_017010615.1:c.21762C>A	XP_016866104.1:p.Gly7254=
XM_017010616.1:c.21918C>A	XP_016866105.1:p.Gly7306=
XM_017010617.1:c.21915C>A	XP_016866106.1:p.Gly7305=
XM_017010618.1:c.21903C>A	XP_016866107.1:p.Gly7301=
XM_017010619.1:c.20193C>A	XP_016866108.1:p.Gly6731=
NM_182961.4:c.21882C>A MANE Select	NP_892006.3:p.Gly7294=
NM_033071.5:c.21669C>A	NP_149062.2:p.Gly7223=