Canonical Allele Identifier: CA1673186884

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152152022G= , CM000668.2:g.152152022G=	GRCh38
NC_000006.11:g.152473157G= , CM000668.1:g.152473157G=	GRCh37
NC_000006.10:g.152514850G=	NCBI36
NG_012855.1:g.490378C=
NG_012855.2:g.490378C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.714C= MANE Plus Clinical	ENSP00000346701.4:p.His238=
ENST00000367255.10:c.24249C= MANE Select	ENSP00000356224.5:p.His8083=
ENST00000423061.6:c.24036C=	ENSP00000396024.1:p.His8012=
ENST00000673173.1:c.163C=
ENST00000673451.1:c.21C=	ENSP00000500189.1:p.His7=
ENST00000341594.9:c.23034C=	ENSP00000341887.6:p.His7678=
ENST00000347037.9:n.928C=
ENST00000354674.4:c.714C=	ENSP00000346701.4:p.His238=
ENST00000367251.7:c.3015C=	ENSP00000356220.3:p.His1005=
ENST00000367255.9:c.24249C=	ENSP00000356224.5:p.His8083=
ENST00000367256.9:n.7941C=
ENST00000367257.8:c.2187C=	ENSP00000356226.4:p.His729=
ENST00000409694.6:n.7833C=
ENST00000423061.5:c.24036C=	ENSP00000396024.1:p.His8012=
ENST00000460912.6:n.794C=
ENST00000476519.1:n.311C=
ENST00000536990.5:n.1086C=
ENST00000539504.5:c.714C=	ENSP00000441052.1:p.His238=
NM_033071.3:c.24036C=	NP_149062.1:p.His8012=
NM_182961.3:c.24249C=	NP_892006.3:p.His8083=
XM_006715407.1:c.24285C=	XP_006715470.1:p.His8095=
XM_006715408.1:c.24273C=	XP_006715471.1:p.His8091=
XM_006715409.1:c.24264C=	XP_006715472.1:p.His8088=
XM_006715410.1:c.24285C=	XP_006715473.1:p.His8095=
XM_006715411.1:c.24234C=	XP_006715474.1:p.His8078=
XM_006715412.1:c.24270C=	XP_006715475.1:p.His8090=
XM_006715413.1:c.24285C=	XP_006715476.1:p.His8095=
XM_006715414.1:c.24213C=	XP_006715477.1:p.His8071=
XM_006715415.1:c.24285C=	XP_006715478.1:p.His8095=
XM_006715416.1:c.24270C=	XP_006715479.1:p.His8090=
XM_006715417.1:c.24144C=	XP_006715480.1:p.His8048=
XM_006715420.1:c.24132C=	XP_006715483.1:p.His8044=
XM_006715421.1:c.24129C=	XP_006715484.1:p.His8043=
XM_006715422.1:c.24126C=	XP_006715485.1:p.His8042=
XM_006715423.1:c.24285C=	XP_006715486.1:p.His8095=
XM_006715424.1:c.24285C=	XP_006715487.1:p.His8095=
XM_006715425.1:c.24285C=	XP_006715488.1:p.His8095=
XM_011535641.1:c.24282C=	XP_011533943.1:p.His8094=
XM_011535642.1:c.24270C=	XP_011533944.1:p.His8090=
XM_011535643.1:c.24120C=	XP_011533945.1:p.His8040=
XM_011535644.1:c.22560C=	XP_011533946.1:p.His7520=
XM_011535645.1:c.22053C=	XP_011533947.1:p.His7351=
XM_011535647.1:c.17520C=	XP_011533949.1:p.His5840=
NM_001347701.1:c.855C=	NP_001334630.1:p.His285=
NM_001347702.1:c.714C=	NP_001334631.1:p.His238=
XM_006715408.2:c.24273C=	XP_006715471.1:p.His8091=
XM_006715410.2:c.24285C=	XP_006715473.1:p.His8095=
XM_006715412.2:c.24270C=	XP_006715475.1:p.His8090=
XM_006715413.2:c.24285C=	XP_006715476.1:p.His8095=
XM_006715415.2:c.24285C=	XP_006715478.1:p.His8095=
XM_006715416.2:c.24270C=	XP_006715479.1:p.His8090=
XM_006715417.2:c.24144C=	XP_006715480.1:p.His8048=
XM_006715420.2:c.24132C=	XP_006715483.1:p.His8044=
XM_006715421.2:c.24129C=	XP_006715484.1:p.His8043=
XM_006715423.2:c.24285C=	XP_006715486.1:p.His8095=
XM_006715424.2:c.24285C=	XP_006715487.1:p.His8095=
XM_006715425.2:c.24285C=	XP_006715488.1:p.His8095=
XM_011535641.2:c.24282C=	XP_011533943.1:p.His8094=
XM_011535642.2:c.24270C=	XP_011533944.1:p.His8090=
XM_011535645.2:c.22053C=	XP_011533947.1:p.His7351=
XM_017010608.1:c.24285C=	XP_016866097.1:p.His8095=
XM_017010609.1:c.24285C=	XP_016866098.1:p.His8095=
XM_017010610.1:c.24264C=	XP_016866099.1:p.His8088=
XM_017010611.2:c.24258C=	XP_016866100.1:p.His8086=
XM_017010612.1:c.24207C=	XP_016866101.1:p.His8069=
XM_017010613.1:c.24282C=	XP_016866102.1:p.His8094=
XM_017010614.1:c.24129C=	XP_016866103.1:p.His8043=
XM_017010615.1:c.24129C=	XP_016866104.1:p.His8043=
XM_017010616.1:c.24285C=	XP_016866105.1:p.His8095=
XM_017010617.1:c.24282C=	XP_016866106.1:p.His8094=
XM_017010618.1:c.24270C=	XP_016866107.1:p.His8090=
XM_017010619.1:c.22560C=	XP_016866108.1:p.His7520=
NM_182961.4:c.24249C= MANE Select	NP_892006.3:p.His8083=
NM_001347701.2:c.855C=	NP_001334630.1:p.His285=
NM_001347702.2:c.714C= MANE Plus Clinical	NP_001334631.1:p.His238=
NM_033071.5:c.24036C=	NP_149062.2:p.His8012=