Canonical Allele Identifier: CA452747416

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152268064A>G , CM000668.2:g.152268064A>G	GRCh38
NC_000006.11:g.152589199A>G , CM000668.1:g.152589199A>G	GRCh37
NC_000006.10:g.152630892A>G	NCBI36
NG_012855.1:g.374336T>C
NG_012855.2:g.374336T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.18807T>C MANE Select	NP_892006.3:p.Gly6269=
ENST00000367255.10:c.18807T>C MANE Select	ENSP00000356224.5:p.Gly6269=
NM_033071.3:c.18594T>C	NP_149062.1:p.Gly6198=
NM_033071.5:c.18594T>C	NP_149062.2:p.Gly6198=
NM_182961.3:c.18807T>C	NP_892006.3:p.Gly6269=
ENST00000341594.9:c.17592T>C	ENSP00000341887.6:p.Gly5864=
ENST00000367255.9:c.18807T>C	ENSP00000356224.5:p.Gly6269=
ENST00000367256.9:n.2499T>C
ENST00000409694.6:n.2391T>C
ENST00000423061.5:c.18594T>C	ENSP00000396024.1:p.Gly6198=
ENST00000423061.6:c.18594T>C	ENSP00000396024.1:p.Gly6198=
ENST00000545694.1:n.108T>C
XM_006715407.1:c.18843T>C	XP_006715470.1:p.Gly6281=
XM_006715408.1:c.18831T>C	XP_006715471.1:p.Gly6277=
XM_006715408.2:c.18831T>C	XP_006715471.1:p.Gly6277=
XM_006715409.1:c.18822T>C	XP_006715472.1:p.Gly6274=
XM_006715410.1:c.18843T>C	XP_006715473.1:p.Gly6281=
XM_006715410.2:c.18843T>C	XP_006715473.1:p.Gly6281=
XM_006715411.1:c.18792T>C	XP_006715474.1:p.Gly6264=
XM_006715412.1:c.18828T>C	XP_006715475.1:p.Gly6276=
XM_006715412.2:c.18828T>C	XP_006715475.1:p.Gly6276=
XM_006715413.1:c.18843T>C	XP_006715476.1:p.Gly6281=
XM_006715413.2:c.18843T>C	XP_006715476.1:p.Gly6281=
XM_006715414.1:c.18771T>C	XP_006715477.1:p.Gly6257=
XM_006715415.1:c.18843T>C	XP_006715478.1:p.Gly6281=
XM_006715415.2:c.18843T>C	XP_006715478.1:p.Gly6281=
XM_006715416.1:c.18828T>C	XP_006715479.1:p.Gly6276=
XM_006715416.2:c.18828T>C	XP_006715479.1:p.Gly6276=
XM_006715417.1:c.18702T>C	XP_006715480.1:p.Gly6234=
XM_006715417.2:c.18702T>C	XP_006715480.1:p.Gly6234=
XM_006715420.1:c.18690T>C	XP_006715483.1:p.Gly6230=
XM_006715420.2:c.18690T>C	XP_006715483.1:p.Gly6230=
XM_006715421.1:c.18687T>C	XP_006715484.1:p.Gly6229=
XM_006715421.2:c.18687T>C	XP_006715484.1:p.Gly6229=
XM_006715422.1:c.18684T>C	XP_006715485.1:p.Gly6228=
XM_006715423.1:c.18843T>C	XP_006715486.1:p.Gly6281=
XM_006715423.2:c.18843T>C	XP_006715486.1:p.Gly6281=
XM_006715424.1:c.18843T>C	XP_006715487.1:p.Gly6281=
XM_006715424.2:c.18843T>C	XP_006715487.1:p.Gly6281=
XM_006715425.1:c.18843T>C	XP_006715488.1:p.Gly6281=
XM_006715425.2:c.18843T>C	XP_006715488.1:p.Gly6281=
XM_011535641.1:c.18840T>C	XP_011533943.1:p.Gly6280=
XM_011535641.2:c.18840T>C	XP_011533943.1:p.Gly6280=
XM_011535642.1:c.18828T>C	XP_011533944.1:p.Gly6276=
XM_011535642.2:c.18828T>C	XP_011533944.1:p.Gly6276=
XM_011535643.1:c.18678T>C	XP_011533945.1:p.Gly6226=
XM_011535644.1:c.17118T>C	XP_011533946.1:p.Gly5706=
XM_011535645.1:c.16611T>C	XP_011533947.1:p.Gly5537=
XM_011535645.2:c.16611T>C	XP_011533947.1:p.Gly5537=
XM_011535646.1:c.18843T>C	XP_011533948.1:p.Gly6281=
XM_011535647.1:c.12078T>C	XP_011533949.1:p.Gly4026=
XM_017010608.1:c.18843T>C	XP_016866097.1:p.Gly6281=
XM_017010609.1:c.18843T>C	XP_016866098.1:p.Gly6281=
XM_017010610.1:c.18822T>C	XP_016866099.1:p.Gly6274=
XM_017010611.2:c.18816T>C	XP_016866100.1:p.Gly6272=
XM_017010612.1:c.18765T>C	XP_016866101.1:p.Gly6255=
XM_017010613.1:c.18840T>C	XP_016866102.1:p.Gly6280=
XM_017010614.1:c.18687T>C	XP_016866103.1:p.Gly6229=
XM_017010615.1:c.18687T>C	XP_016866104.1:p.Gly6229=
XM_017010616.1:c.18843T>C	XP_016866105.1:p.Gly6281=
XM_017010617.1:c.18840T>C	XP_016866106.1:p.Gly6280=
XM_017010618.1:c.18828T>C	XP_016866107.1:p.Gly6276=
XM_017010619.1:c.17118T>C	XP_016866108.1:p.Gly5706=
XR_001743287.1:n.19326T>C