Canonical Allele Identifier: CA4055865

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152326415G>A , CM000668.2:g.152326415G>A	GRCh38
NC_000006.11:g.152647550G>A , CM000668.1:g.152647550G>A	GRCh37
NC_000006.10:g.152689243G>A	NCBI36
NG_012855.1:g.315985C>T
NG_012855.2:g.315985C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.15174C>T MANE Select	NP_892006.3:p.Thr5058=
ENST00000367255.10:c.15174C>T MANE Select	ENSP00000356224.5:p.Thr5058=
NM_033071.3:c.14961C>T	NP_149062.1:p.Thr4987=
NM_033071.5:c.14961C>T	NP_149062.2:p.Thr4987=
NM_182961.3:c.15174C>T	NP_892006.3:p.Thr5058=
ENST00000341594.9:c.14364C>T	ENSP00000341887.6:p.Thr4788=
ENST00000367255.9:c.15174C>T	ENSP00000356224.5:p.Thr5058=
ENST00000423061.5:c.14961C>T	ENSP00000396024.1:p.Thr4987=
ENST00000423061.6:c.14961C>T	ENSP00000396024.1:p.Thr4987=
ENST00000448038.2:c.-745C>T	ENSP00000390975.2:n.-745C>T
ENST00000490135.6:n.2520C>T
XM_006715407.1:c.15195C>T	XP_006715470.1:p.Thr5065=
XM_006715408.1:c.15195C>T	XP_006715471.1:p.Thr5065=
XM_006715408.2:c.15195C>T	XP_006715471.1:p.Thr5065=
XM_006715409.1:c.15174C>T	XP_006715472.1:p.Thr5058=
XM_006715410.1:c.15195C>T	XP_006715473.1:p.Thr5065=
XM_006715410.2:c.15195C>T	XP_006715473.1:p.Thr5065=
XM_006715411.1:c.15144C>T	XP_006715474.1:p.Thr5048=
XM_006715412.1:c.15195C>T	XP_006715475.1:p.Thr5065=
XM_006715412.2:c.15195C>T	XP_006715475.1:p.Thr5065=
XM_006715413.1:c.15195C>T	XP_006715476.1:p.Thr5065=
XM_006715413.2:c.15195C>T	XP_006715476.1:p.Thr5065=
XM_006715414.1:c.15123C>T	XP_006715477.1:p.Thr5041=
XM_006715415.1:c.15195C>T	XP_006715478.1:p.Thr5065=
XM_006715415.2:c.15195C>T	XP_006715478.1:p.Thr5065=
XM_006715416.1:c.15195C>T	XP_006715479.1:p.Thr5065=
XM_006715416.2:c.15195C>T	XP_006715479.1:p.Thr5065=
XM_006715417.1:c.15195C>T	XP_006715480.1:p.Thr5065=
XM_006715417.2:c.15195C>T	XP_006715480.1:p.Thr5065=
XM_006715420.1:c.15195C>T	XP_006715483.1:p.Thr5065=
XM_006715420.2:c.15195C>T	XP_006715483.1:p.Thr5065=
XM_006715421.1:c.15039C>T	XP_006715484.1:p.Thr5013=
XM_006715421.2:c.15039C>T	XP_006715484.1:p.Thr5013=
XM_006715422.1:c.15036C>T	XP_006715485.1:p.Thr5012=
XM_006715423.1:c.15195C>T	XP_006715486.1:p.Thr5065=
XM_006715423.2:c.15195C>T	XP_006715486.1:p.Thr5065=
XM_006715424.1:c.15195C>T	XP_006715487.1:p.Thr5065=
XM_006715424.2:c.15195C>T	XP_006715487.1:p.Thr5065=
XM_006715425.1:c.15195C>T	XP_006715488.1:p.Thr5065=
XM_006715425.2:c.15195C>T	XP_006715488.1:p.Thr5065=
XM_011535641.1:c.15195C>T	XP_011533943.1:p.Thr5065=
XM_011535641.2:c.15195C>T	XP_011533943.1:p.Thr5065=
XM_011535642.1:c.15195C>T	XP_011533944.1:p.Thr5065=
XM_011535642.2:c.15195C>T	XP_011533944.1:p.Thr5065=
XM_011535643.1:c.15030C>T	XP_011533945.1:p.Thr5010=
XM_011535644.1:c.13470C>T	XP_011533946.1:p.Thr4490=
XM_011535645.1:c.12963C>T	XP_011533947.1:p.Thr4321=
XM_011535645.2:c.12963C>T	XP_011533947.1:p.Thr4321=
XM_011535646.1:c.15195C>T	XP_011533948.1:p.Thr5065=
XM_011535647.1:c.8430C>T	XP_011533949.1:p.Thr2810=
XM_017010608.1:c.15195C>T	XP_016866097.1:p.Thr5065=
XM_017010609.1:c.15195C>T	XP_016866098.1:p.Thr5065=
XM_017010610.1:c.15174C>T	XP_016866099.1:p.Thr5058=
XM_017010611.2:c.15168C>T	XP_016866100.1:p.Thr5056=
XM_017010612.1:c.15117C>T	XP_016866101.1:p.Thr5039=
XM_017010613.1:c.15195C>T	XP_016866102.1:p.Thr5065=
XM_017010614.1:c.15195C>T	XP_016866103.1:p.Thr5065=
XM_017010615.1:c.15195C>T	XP_016866104.1:p.Thr5065=
XM_017010616.1:c.15195C>T	XP_016866105.1:p.Thr5065=
XM_017010617.1:c.15195C>T	XP_016866106.1:p.Thr5065=
XM_017010618.1:c.15195C>T	XP_016866107.1:p.Thr5065=
XM_017010619.1:c.13470C>T	XP_016866108.1:p.Thr4490=
XR_001743287.1:n.15678C>T