Canonical Allele Identifier: CA155434

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152145539T>C , CM000668.2:g.152145539T>C	GRCh38
NC_000006.11:g.152466674T>C , CM000668.1:g.152466674T>C	GRCh37
NC_000006.10:g.152508367T>C	NCBI36
NG_012855.1:g.496861A>G
NG_012855.2:g.496861A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1458A>G MANE Plus Clinical	ENSP00000346701.4:p.Glu486=
ENST00000367255.10:c.24977-1774A>G MANE Select	ENSP00000356224.5:n.24977-1774A>G
ENST00000423061.6:c.24780A>G	ENSP00000396024.1:p.Glu8260=
ENST00000672154.1:c.379-1774A>G
ENST00000672169.1:c.712-1774A>G
ENST00000673173.1:c.890+2506A>G
ENST00000673451.1:c.749-1774A>G	ENSP00000500189.1:n.749-1774A>G
ENST00000341594.9:c.23762-1774A>G	ENSP00000341887.6:n.23762-1774A>G
ENST00000347037.9:n.1672A>G
ENST00000354674.4:c.1458A>G	ENSP00000346701.4:p.Glu486=
ENST00000367251.7:c.3759A>G	ENSP00000356220.3:p.Glu1253=
ENST00000367255.9:c.24977-1774A>G	ENSP00000356224.5:n.24977-1774A>G
ENST00000367256.9:n.8669-1774A>G
ENST00000367257.8:c.2915-1774A>G	ENSP00000356226.4:n.2915-1774A>G
ENST00000409694.6:n.8561-1774A>G
ENST00000423061.5:c.24780A>G	ENSP00000396024.1:p.Glu8260=
ENST00000460912.6:n.1538A>G
ENST00000478916.5:n.2225A>G
ENST00000536990.5:n.1814-1774A>G
ENST00000539504.5:c.1442-1774A>G	ENSP00000441052.1:n.1442-1774A>G
NM_033071.3:c.24780A>G	NP_149062.1:p.Glu8260=
NM_182961.3:c.24977-1774A>G	NP_892006.3:n.24977-1774A>G
XM_006715407.1:c.25029A>G	XP_006715470.1:p.Glu8343=
XM_006715408.1:c.25017A>G	XP_006715471.1:p.Glu8339=
XM_006715409.1:c.25008A>G	XP_006715472.1:p.Glu8336=
XM_006715410.1:c.25029A>G	XP_006715473.1:p.Glu8343=
XM_006715411.1:c.24978A>G	XP_006715474.1:p.Glu8326=
XM_006715412.1:c.25014A>G	XP_006715475.1:p.Glu8338=
XM_006715413.1:c.25013-1774A>G	XP_006715476.1:n.25013-1774A>G
XM_006715414.1:c.24957A>G	XP_006715477.1:p.Glu8319=
XM_006715415.1:c.25013-1774A>G	XP_006715478.1:n.25013-1774A>G
XM_006715416.1:c.24998-1774A>G	XP_006715479.1:n.24998-1774A>G
XM_006715417.1:c.24888A>G	XP_006715480.1:p.Glu8296=
XM_006715420.1:c.24876A>G	XP_006715483.1:p.Glu8292=
XM_006715421.1:c.24873A>G	XP_006715484.1:p.Glu8291=
XM_006715422.1:c.24870A>G	XP_006715485.1:p.Glu8290=
XM_006715423.1:c.25029A>G	XP_006715486.1:p.Glu8343=
XM_006715424.1:c.25029A>G	XP_006715487.1:p.Glu8343=
XM_006715425.1:c.25013-1774A>G	XP_006715488.1:n.25013-1774A>G
XM_011535641.1:c.25026A>G	XP_011533943.1:p.Glu8342=
XM_011535642.1:c.25014A>G	XP_011533944.1:p.Glu8338=
XM_011535643.1:c.24864A>G	XP_011533945.1:p.Glu8288=
XM_011535644.1:c.23304A>G	XP_011533946.1:p.Glu7768=
XM_011535645.1:c.22797A>G	XP_011533947.1:p.Glu7599=
XM_011535647.1:c.18264A>G	XP_011533949.1:p.Glu6088=
NM_001347701.1:c.1583-1774A>G	NP_001334630.1:n.1583-1774A>G
NM_001347702.1:c.1458A>G	NP_001334631.1:p.Glu486=
XM_006715408.2:c.25017A>G	XP_006715471.1:p.Glu8339=
XM_006715410.2:c.25029A>G	XP_006715473.1:p.Glu8343=
XM_006715412.2:c.25014A>G	XP_006715475.1:p.Glu8338=
XM_006715413.2:c.25013-1774A>G	XP_006715476.1:n.25013-1774A>G
XM_006715415.2:c.25013-1774A>G	XP_006715478.1:n.25013-1774A>G
XM_006715416.2:c.24998-1774A>G	XP_006715479.1:n.24998-1774A>G
XM_006715417.2:c.24888A>G	XP_006715480.1:p.Glu8296=
XM_006715420.2:c.24876A>G	XP_006715483.1:p.Glu8292=
XM_006715421.2:c.24873A>G	XP_006715484.1:p.Glu8291=
XM_006715423.2:c.25029A>G	XP_006715486.1:p.Glu8343=
XM_006715424.2:c.25029A>G	XP_006715487.1:p.Glu8343=
XM_006715425.2:c.25013-1774A>G	XP_006715488.1:n.25013-1774A>G
XM_011535641.2:c.25026A>G	XP_011533943.1:p.Glu8342=
XM_011535642.2:c.25014A>G	XP_011533944.1:p.Glu8338=
XM_011535645.2:c.22797A>G	XP_011533947.1:p.Glu7599=
XM_017010608.1:c.25029A>G	XP_016866097.1:p.Glu8343=
XM_017010609.1:c.25029A>G	XP_016866098.1:p.Glu8343=
XM_017010610.1:c.25008A>G	XP_016866099.1:p.Glu8336=
XM_017010611.2:c.25002A>G	XP_016866100.1:p.Glu8334=
XM_017010612.1:c.24951A>G	XP_016866101.1:p.Glu8317=
XM_017010613.1:c.25010-1774A>G	XP_016866102.1:n.25010-1774A>G
XM_017010614.1:c.24873A>G	XP_016866103.1:p.Glu8291=
XM_017010615.1:c.24857-1774A>G	XP_016866104.1:n.24857-1774A>G
XM_017010616.1:c.25013-1774A>G	XP_016866105.1:n.25013-1774A>G
XM_017010617.1:c.25010-1774A>G	XP_016866106.1:n.25010-1774A>G
XM_017010618.1:c.24998-1774A>G	XP_016866107.1:n.24998-1774A>G
XM_017010619.1:c.23304A>G	XP_016866108.1:p.Glu7768=
NM_182961.4:c.24977-1774A>G MANE Select	NP_892006.3:n.24977-1774A>G
NM_001347701.2:c.1583-1774A>G	NP_001334630.1:n.1583-1774A>G
NM_001347702.2:c.1458A>G MANE Plus Clinical	NP_001334631.1:p.Glu486=
NM_033071.5:c.24780A>G	NP_149062.2:p.Glu8260=