Canonical Allele Identifier: CA366151139

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152453621G>A , CM000668.2:g.152453621G>A	GRCh38
NC_000006.11:g.152774756G>A , CM000668.1:g.152774756G>A	GRCh37
NC_000006.10:g.152816449G>A	NCBI36
NG_012855.1:g.188779C>T
NG_012855.2:g.188779C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.2992C>T MANE Select	NP_892006.3:p.Gln998Ter
ENST00000367255.10:c.2992C>T MANE Select	ENSP00000356224.5:p.Gln998Ter
NM_033071.3:c.3013C>T	NP_149062.1:p.Gln1005Ter
NM_033071.5:c.3013C>T	NP_149062.2:p.Gln1005Ter
NM_182961.3:c.2992C>T	NP_892006.3:p.Gln998Ter
ENST00000341594.9:c.3139C>T	ENSP00000341887.6:p.Gln1047Ter
ENST00000367248.7:c.2962C>T	ENSP00000356217.3:p.Gln988Ter
ENST00000367253.8:c.2992C>T	ENSP00000356222.4:p.Gln998Ter
ENST00000367255.9:c.2992C>T	ENSP00000356224.5:p.Gln998Ter
ENST00000413186.6:c.2992C>T	ENSP00000414510.2:p.Gln998Ter
ENST00000423061.5:c.3013C>T	ENSP00000396024.1:p.Gln1005Ter
ENST00000423061.6:c.3013C>T	ENSP00000396024.1:p.Gln1005Ter
ENST00000461872.6:n.3210C>T
ENST00000474655.6:c.1594C>T
ENST00000495090.6:c.1693C>T	ENSP00000438508.1:p.Gln565Ter
ENST00000671915.1:c.289C>T	ENSP00000500319.1:p.Gln97Ter
ENST00000672122.1:c.2935C>T	ENSP00000500559.1:p.Gln979Ter
ENST00000673163.1:c.*2962C>T	ENSP00000499934.1:n.*2962C>T
ENST00000673281.1:c.2986C>T	ENSP00000500893.1:p.Gln996Ter
XM_006715407.1:c.3013C>T	XP_006715470.1:p.Gln1005Ter
XM_006715408.1:c.3013C>T	XP_006715471.1:p.Gln1005Ter
XM_006715408.2:c.3013C>T	XP_006715471.1:p.Gln1005Ter
XM_006715409.1:c.2992C>T	XP_006715472.1:p.Gln998Ter
XM_006715410.1:c.3013C>T	XP_006715473.1:p.Gln1005Ter
XM_006715410.2:c.3013C>T	XP_006715473.1:p.Gln1005Ter
XM_006715411.1:c.2962C>T	XP_006715474.1:p.Gln988Ter
XM_006715412.1:c.3013C>T	XP_006715475.1:p.Gln1005Ter
XM_006715412.2:c.3013C>T	XP_006715475.1:p.Gln1005Ter
XM_006715413.1:c.3013C>T	XP_006715476.1:p.Gln1005Ter
XM_006715413.2:c.3013C>T	XP_006715476.1:p.Gln1005Ter
XM_006715414.1:c.2941C>T	XP_006715477.1:p.Gln981Ter
XM_006715415.1:c.3013C>T	XP_006715478.1:p.Gln1005Ter
XM_006715415.2:c.3013C>T	XP_006715478.1:p.Gln1005Ter
XM_006715416.1:c.3013C>T	XP_006715479.1:p.Gln1005Ter
XM_006715416.2:c.3013C>T	XP_006715479.1:p.Gln1005Ter
XM_006715417.1:c.3013C>T	XP_006715480.1:p.Gln1005Ter
XM_006715417.2:c.3013C>T	XP_006715480.1:p.Gln1005Ter
XM_006715420.1:c.3013C>T	XP_006715483.1:p.Gln1005Ter
XM_006715420.2:c.3013C>T	XP_006715483.1:p.Gln1005Ter
XM_006715421.1:c.3013C>T	XP_006715484.1:p.Gln1005Ter
XM_006715421.2:c.3013C>T	XP_006715484.1:p.Gln1005Ter
XM_006715422.1:c.2854C>T	XP_006715485.1:p.Gln952Ter
XM_006715423.1:c.3013C>T	XP_006715486.1:p.Gln1005Ter
XM_006715423.2:c.3013C>T	XP_006715486.1:p.Gln1005Ter
XM_006715424.1:c.3013C>T	XP_006715487.1:p.Gln1005Ter
XM_006715424.2:c.3013C>T	XP_006715487.1:p.Gln1005Ter
XM_006715425.1:c.3013C>T	XP_006715488.1:p.Gln1005Ter
XM_006715425.2:c.3013C>T	XP_006715488.1:p.Gln1005Ter
XM_011535641.1:c.3013C>T	XP_011533943.1:p.Gln1005Ter
XM_011535641.2:c.3013C>T	XP_011533943.1:p.Gln1005Ter
XM_011535642.1:c.3013C>T	XP_011533944.1:p.Gln1005Ter
XM_011535642.2:c.3013C>T	XP_011533944.1:p.Gln1005Ter
XM_011535643.1:c.2848C>T	XP_011533945.1:p.Gln950Ter
XM_011535644.1:c.1288C>T	XP_011533946.1:p.Gln430Ter
XM_011535645.1:c.781C>T	XP_011533947.1:p.Gln261Ter
XM_011535645.2:c.781C>T	XP_011533947.1:p.Gln261Ter
XM_011535646.1:c.3013C>T	XP_011533948.1:p.Gln1005Ter
XM_017010608.1:c.3013C>T	XP_016866097.1:p.Gln1005Ter
XM_017010609.1:c.3013C>T	XP_016866098.1:p.Gln1005Ter
XM_017010610.1:c.2992C>T	XP_016866099.1:p.Gln998Ter
XM_017010611.2:c.2986C>T	XP_016866100.1:p.Gln996Ter
XM_017010612.1:c.2935C>T	XP_016866101.1:p.Gln979Ter
XM_017010613.1:c.3013C>T	XP_016866102.1:p.Gln1005Ter
XM_017010614.1:c.3013C>T	XP_016866103.1:p.Gln1005Ter
XM_017010615.1:c.3013C>T	XP_016866104.1:p.Gln1005Ter
XM_017010616.1:c.3013C>T	XP_016866105.1:p.Gln1005Ter
XM_017010617.1:c.3013C>T	XP_016866106.1:p.Gln1005Ter
XM_017010618.1:c.3013C>T	XP_016866107.1:p.Gln1005Ter
XM_017010619.1:c.1288C>T	XP_016866108.1:p.Gln430Ter
XR_001743287.1:n.3496C>T