Canonical Allele Identifier: CA1673241108

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213667G= , CM000668.2:g.152213667G=	GRCh38
NC_000006.11:g.152534802G= , CM000668.1:g.152534802G=	GRCh37
NC_000006.10:g.152576495G=	NCBI36
NG_012855.1:g.428733C=
NG_012855.2:g.428733C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22439C= MANE Select	ENSP00000356224.5:p.Ala7480=
ENST00000423061.6:c.22226C=	ENSP00000396024.1:p.Ala7409=
ENST00000341594.9:c.21224C=	ENSP00000341887.6:p.Ala7075=
ENST00000367251.7:c.1205C=	ENSP00000356220.3:p.Ala402=
ENST00000367255.9:c.22439C=	ENSP00000356224.5:p.Ala7480=
ENST00000367256.9:n.6131C=
ENST00000367257.8:c.377C=	ENSP00000356226.4:p.Ala126=
ENST00000409694.6:n.6023C=
ENST00000423061.5:c.22226C=	ENSP00000396024.1:p.Ala7409=
NM_033071.3:c.22226C=	NP_149062.1:p.Ala7409=
NM_182961.3:c.22439C=	NP_892006.3:p.Ala7480=
XM_006715407.1:c.22475C=	XP_006715470.1:p.Ala7492=
XM_006715408.1:c.22463C=	XP_006715471.1:p.Ala7488=
XM_006715409.1:c.22454C=	XP_006715472.1:p.Ala7485=
XM_006715410.1:c.22475C=	XP_006715473.1:p.Ala7492=
XM_006715411.1:c.22424C=	XP_006715474.1:p.Ala7475=
XM_006715412.1:c.22460C=	XP_006715475.1:p.Ala7487=
XM_006715413.1:c.22475C=	XP_006715476.1:p.Ala7492=
XM_006715414.1:c.22403C=	XP_006715477.1:p.Ala7468=
XM_006715415.1:c.22475C=	XP_006715478.1:p.Ala7492=
XM_006715416.1:c.22460C=	XP_006715479.1:p.Ala7487=
XM_006715417.1:c.22334C=	XP_006715480.1:p.Ala7445=
XM_006715420.1:c.22322C=	XP_006715483.1:p.Ala7441=
XM_006715421.1:c.22319C=	XP_006715484.1:p.Ala7440=
XM_006715422.1:c.22316C=	XP_006715485.1:p.Ala7439=
XM_006715423.1:c.22475C=	XP_006715486.1:p.Ala7492=
XM_006715424.1:c.22475C=	XP_006715487.1:p.Ala7492=
XM_006715425.1:c.22475C=	XP_006715488.1:p.Ala7492=
XM_011535641.1:c.22472C=	XP_011533943.1:p.Ala7491=
XM_011535642.1:c.22460C=	XP_011533944.1:p.Ala7487=
XM_011535643.1:c.22310C=	XP_011533945.1:p.Ala7437=
XM_011535644.1:c.20750C=	XP_011533946.1:p.Ala6917=
XM_011535645.1:c.20243C=	XP_011533947.1:p.Ala6748=
XM_011535647.1:c.15710C=	XP_011533949.1:p.Ala5237=
XM_006715408.2:c.22463C=	XP_006715471.1:p.Ala7488=
XM_006715410.2:c.22475C=	XP_006715473.1:p.Ala7492=
XM_006715412.2:c.22460C=	XP_006715475.1:p.Ala7487=
XM_006715413.2:c.22475C=	XP_006715476.1:p.Ala7492=
XM_006715415.2:c.22475C=	XP_006715478.1:p.Ala7492=
XM_006715416.2:c.22460C=	XP_006715479.1:p.Ala7487=
XM_006715417.2:c.22334C=	XP_006715480.1:p.Ala7445=
XM_006715420.2:c.22322C=	XP_006715483.1:p.Ala7441=
XM_006715421.2:c.22319C=	XP_006715484.1:p.Ala7440=
XM_006715423.2:c.22475C=	XP_006715486.1:p.Ala7492=
XM_006715424.2:c.22475C=	XP_006715487.1:p.Ala7492=
XM_006715425.2:c.22475C=	XP_006715488.1:p.Ala7492=
XM_011535641.2:c.22472C=	XP_011533943.1:p.Ala7491=
XM_011535642.2:c.22460C=	XP_011533944.1:p.Ala7487=
XM_011535645.2:c.20243C=	XP_011533947.1:p.Ala6748=
XM_017010608.1:c.22475C=	XP_016866097.1:p.Ala7492=
XM_017010609.1:c.22475C=	XP_016866098.1:p.Ala7492=
XM_017010610.1:c.22454C=	XP_016866099.1:p.Ala7485=
XM_017010611.2:c.22448C=	XP_016866100.1:p.Ala7483=
XM_017010612.1:c.22397C=	XP_016866101.1:p.Ala7466=
XM_017010613.1:c.22472C=	XP_016866102.1:p.Ala7491=
XM_017010614.1:c.22319C=	XP_016866103.1:p.Ala7440=
XM_017010615.1:c.22319C=	XP_016866104.1:p.Ala7440=
XM_017010616.1:c.22475C=	XP_016866105.1:p.Ala7492=
XM_017010617.1:c.22472C=	XP_016866106.1:p.Ala7491=
XM_017010618.1:c.22460C=	XP_016866107.1:p.Ala7487=
XM_017010619.1:c.20750C=	XP_016866108.1:p.Ala6917=
NM_182961.4:c.22439C= MANE Select	NP_892006.3:p.Ala7480=
NM_033071.5:c.22226C=	NP_149062.2:p.Ala7409=