Canonical Allele Identifier: CA247909

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152310734C>T , CM000668.2:g.152310734C>T	GRCh38
NC_000006.11:g.152631869C>T , CM000668.1:g.152631869C>T	GRCh37
NC_000006.10:g.152673562C>T	NCBI36
NG_012855.1:g.331666G>A
NG_012855.2:g.331666G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.16850G>A MANE Select	NP_892006.3:p.Arg5617Gln
ENST00000367255.10:c.16850G>A MANE Select	ENSP00000356224.5:p.Arg5617Gln
NM_033071.3:c.16637G>A	NP_149062.1:p.Arg5546Gln
NM_033071.5:c.16637G>A	NP_149062.2:p.Arg5546Gln
NM_182961.3:c.16850G>A	NP_892006.3:p.Arg5617Gln
ENST00000341594.9:c.15635G>A	ENSP00000341887.6:p.Arg5212Gln
ENST00000367255.9:c.16850G>A	ENSP00000356224.5:p.Arg5617Gln
ENST00000367256.9:n.542G>A
ENST00000409694.6:n.434G>A
ENST00000423061.5:c.16637G>A	ENSP00000396024.1:p.Arg5546Gln
ENST00000423061.6:c.16637G>A	ENSP00000396024.1:p.Arg5546Gln
ENST00000682252.1:n.921G>A
ENST00000684208.1:n.921G>A
ENST00000684643.1:n.1010G>A
XM_006715407.1:c.16871G>A	XP_006715470.1:p.Arg5624Gln
XM_006715408.1:c.16871G>A	XP_006715471.1:p.Arg5624Gln
XM_006715408.2:c.16871G>A	XP_006715471.1:p.Arg5624Gln
XM_006715409.1:c.16850G>A	XP_006715472.1:p.Arg5617Gln
XM_006715410.1:c.16871G>A	XP_006715473.1:p.Arg5624Gln
XM_006715410.2:c.16871G>A	XP_006715473.1:p.Arg5624Gln
XM_006715411.1:c.16820G>A	XP_006715474.1:p.Arg5607Gln
XM_006715412.1:c.16871G>A	XP_006715475.1:p.Arg5624Gln
XM_006715412.2:c.16871G>A	XP_006715475.1:p.Arg5624Gln
XM_006715413.1:c.16871G>A	XP_006715476.1:p.Arg5624Gln
XM_006715413.2:c.16871G>A	XP_006715476.1:p.Arg5624Gln
XM_006715414.1:c.16799G>A	XP_006715477.1:p.Arg5600Gln
XM_006715415.1:c.16871G>A	XP_006715478.1:p.Arg5624Gln
XM_006715415.2:c.16871G>A	XP_006715478.1:p.Arg5624Gln
XM_006715416.1:c.16871G>A	XP_006715479.1:p.Arg5624Gln
XM_006715416.2:c.16871G>A	XP_006715479.1:p.Arg5624Gln
XM_006715417.1:c.16871G>A	XP_006715480.1:p.Arg5624Gln
XM_006715417.2:c.16871G>A	XP_006715480.1:p.Arg5624Gln
XM_006715420.1:c.16871G>A	XP_006715483.1:p.Arg5624Gln
XM_006715420.2:c.16871G>A	XP_006715483.1:p.Arg5624Gln
XM_006715421.1:c.16715G>A	XP_006715484.1:p.Arg5572Gln
XM_006715421.2:c.16715G>A	XP_006715484.1:p.Arg5572Gln
XM_006715422.1:c.16712G>A	XP_006715485.1:p.Arg5571Gln
XM_006715423.1:c.16871G>A	XP_006715486.1:p.Arg5624Gln
XM_006715423.2:c.16871G>A	XP_006715486.1:p.Arg5624Gln
XM_006715424.1:c.16871G>A	XP_006715487.1:p.Arg5624Gln
XM_006715424.2:c.16871G>A	XP_006715487.1:p.Arg5624Gln
XM_006715425.1:c.16871G>A	XP_006715488.1:p.Arg5624Gln
XM_006715425.2:c.16871G>A	XP_006715488.1:p.Arg5624Gln
XM_011535641.1:c.16871G>A	XP_011533943.1:p.Arg5624Gln
XM_011535641.2:c.16871G>A	XP_011533943.1:p.Arg5624Gln
XM_011535642.1:c.16871G>A	XP_011533944.1:p.Arg5624Gln
XM_011535642.2:c.16871G>A	XP_011533944.1:p.Arg5624Gln
XM_011535643.1:c.16706G>A	XP_011533945.1:p.Arg5569Gln
XM_011535644.1:c.15146G>A	XP_011533946.1:p.Arg5049Gln
XM_011535645.1:c.14639G>A	XP_011533947.1:p.Arg4880Gln
XM_011535645.2:c.14639G>A	XP_011533947.1:p.Arg4880Gln
XM_011535646.1:c.16871G>A	XP_011533948.1:p.Arg5624Gln
XM_011535647.1:c.10106G>A	XP_011533949.1:p.Arg3369Gln
XM_017010608.1:c.16871G>A	XP_016866097.1:p.Arg5624Gln
XM_017010609.1:c.16871G>A	XP_016866098.1:p.Arg5624Gln
XM_017010610.1:c.16850G>A	XP_016866099.1:p.Arg5617Gln
XM_017010611.2:c.16844G>A	XP_016866100.1:p.Arg5615Gln
XM_017010612.1:c.16793G>A	XP_016866101.1:p.Arg5598Gln
XM_017010613.1:c.16871G>A	XP_016866102.1:p.Arg5624Gln
XM_017010614.1:c.16871G>A	XP_016866103.1:p.Arg5624Gln
XM_017010615.1:c.16871G>A	XP_016866104.1:p.Arg5624Gln
XM_017010616.1:c.16871G>A	XP_016866105.1:p.Arg5624Gln
XM_017010617.1:c.16871G>A	XP_016866106.1:p.Arg5624Gln
XM_017010618.1:c.16871G>A	XP_016866107.1:p.Arg5624Gln
XM_017010619.1:c.15146G>A	XP_016866108.1:p.Arg5049Gln
XR_001743287.1:n.17354G>A