Canonical Allele Identifier: CA571128633

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152145494A>G , CM000668.2:g.152145494A>G	GRCh38
NC_000006.11:g.152466629A>G , CM000668.1:g.152466629A>G	GRCh37
NC_000006.10:g.152508322A>G	NCBI36
NG_012855.1:g.496906T>C
NG_012855.2:g.496906T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.24977-1729T>C MANE Select	NP_892006.3:n.24977-1729T>C
ENST00000367255.10:c.24977-1729T>C MANE Select	ENSP00000356224.5:n.24977-1729T>C
NM_001347702.2:c.1503T>C MANE Plus Clinical	NP_001334631.1:p.Asn501=
ENST00000354674.5:c.1503T>C MANE Plus Clinical	ENSP00000346701.4:p.Asn501=
NM_001347701.1:c.1583-1729T>C	NP_001334630.1:n.1583-1729T>C
NM_001347701.2:c.1583-1729T>C	NP_001334630.1:n.1583-1729T>C
NM_001347702.1:c.1503T>C	NP_001334631.1:p.Asn501=
NM_033071.3:c.24825T>C	NP_149062.1:p.Asn8275=
NM_033071.5:c.24825T>C	NP_149062.2:p.Asn8275=
NM_182961.3:c.24977-1729T>C	NP_892006.3:n.24977-1729T>C
ENST00000341594.9:c.23762-1729T>C	ENSP00000341887.6:n.23762-1729T>C
ENST00000347037.9:n.1717T>C
ENST00000354674.4:c.1503T>C	ENSP00000346701.4:p.Asn501=
ENST00000367251.7:c.3804T>C	ENSP00000356220.3:p.Asn1268=
ENST00000367255.9:c.24977-1729T>C	ENSP00000356224.5:n.24977-1729T>C
ENST00000367256.9:n.8669-1729T>C
ENST00000367257.8:c.2915-1729T>C	ENSP00000356226.4:n.2915-1729T>C
ENST00000409694.6:n.8561-1729T>C
ENST00000423061.5:c.24825T>C	ENSP00000396024.1:p.Asn8275=
ENST00000423061.6:c.24825T>C	ENSP00000396024.1:p.Asn8275=
ENST00000460912.6:n.1583T>C
ENST00000478916.5:n.2270T>C
ENST00000536990.5:n.1814-1729T>C
ENST00000539504.5:c.1442-1729T>C	ENSP00000441052.1:n.1442-1729T>C
ENST00000672154.1:c.379-1729T>C
ENST00000672169.1:c.712-1729T>C
ENST00000673173.1:c.890+2551T>C
ENST00000673451.1:c.749-1729T>C	ENSP00000500189.1:n.749-1729T>C
XM_006715407.1:c.25074T>C	XP_006715470.1:p.Asn8358=
XM_006715408.1:c.25062T>C	XP_006715471.1:p.Asn8354=
XM_006715408.2:c.25062T>C	XP_006715471.1:p.Asn8354=
XM_006715409.1:c.25053T>C	XP_006715472.1:p.Asn8351=
XM_006715410.1:c.25074T>C	XP_006715473.1:p.Asn8358=
XM_006715410.2:c.25074T>C	XP_006715473.1:p.Asn8358=
XM_006715411.1:c.25023T>C	XP_006715474.1:p.Asn8341=
XM_006715412.1:c.25059T>C	XP_006715475.1:p.Asn8353=
XM_006715412.2:c.25059T>C	XP_006715475.1:p.Asn8353=
XM_006715413.1:c.25013-1729T>C	XP_006715476.1:n.25013-1729T>C
XM_006715413.2:c.25013-1729T>C	XP_006715476.1:n.25013-1729T>C
XM_006715414.1:c.25002T>C	XP_006715477.1:p.Asn8334=
XM_006715415.1:c.25013-1729T>C	XP_006715478.1:n.25013-1729T>C
XM_006715415.2:c.25013-1729T>C	XP_006715478.1:n.25013-1729T>C
XM_006715416.1:c.24998-1729T>C	XP_006715479.1:n.24998-1729T>C
XM_006715416.2:c.24998-1729T>C	XP_006715479.1:n.24998-1729T>C
XM_006715417.1:c.24933T>C	XP_006715480.1:p.Asn8311=
XM_006715417.2:c.24933T>C	XP_006715480.1:p.Asn8311=
XM_006715420.1:c.24921T>C	XP_006715483.1:p.Asn8307=
XM_006715420.2:c.24921T>C	XP_006715483.1:p.Asn8307=
XM_006715421.1:c.24918T>C	XP_006715484.1:p.Asn8306=
XM_006715421.2:c.24918T>C	XP_006715484.1:p.Asn8306=
XM_006715422.1:c.24915T>C	XP_006715485.1:p.Asn8305=
XM_006715423.1:c.25074T>C	XP_006715486.1:p.Asn8358=
XM_006715423.2:c.25074T>C	XP_006715486.1:p.Asn8358=
XM_006715424.1:c.25074T>C	XP_006715487.1:p.Asn8358=
XM_006715424.2:c.25074T>C	XP_006715487.1:p.Asn8358=
XM_006715425.1:c.25013-1729T>C	XP_006715488.1:n.25013-1729T>C
XM_006715425.2:c.25013-1729T>C	XP_006715488.1:n.25013-1729T>C
XM_011535641.1:c.25071T>C	XP_011533943.1:p.Asn8357=
XM_011535641.2:c.25071T>C	XP_011533943.1:p.Asn8357=
XM_011535642.1:c.25059T>C	XP_011533944.1:p.Asn8353=
XM_011535642.2:c.25059T>C	XP_011533944.1:p.Asn8353=
XM_011535643.1:c.24909T>C	XP_011533945.1:p.Asn8303=
XM_011535644.1:c.23349T>C	XP_011533946.1:p.Asn7783=
XM_011535645.1:c.22842T>C	XP_011533947.1:p.Asn7614=
XM_011535645.2:c.22842T>C	XP_011533947.1:p.Asn7614=
XM_011535647.1:c.18309T>C	XP_011533949.1:p.Asn6103=
XM_017010608.1:c.25074T>C	XP_016866097.1:p.Asn8358=
XM_017010609.1:c.25074T>C	XP_016866098.1:p.Asn8358=
XM_017010610.1:c.25053T>C	XP_016866099.1:p.Asn8351=
XM_017010611.2:c.25047T>C	XP_016866100.1:p.Asn8349=
XM_017010612.1:c.24996T>C	XP_016866101.1:p.Asn8332=
XM_017010613.1:c.25010-1729T>C	XP_016866102.1:n.25010-1729T>C
XM_017010614.1:c.24918T>C	XP_016866103.1:p.Asn8306=
XM_017010615.1:c.24857-1729T>C	XP_016866104.1:n.24857-1729T>C
XM_017010616.1:c.25013-1729T>C	XP_016866105.1:n.25013-1729T>C
XM_017010617.1:c.25010-1729T>C	XP_016866106.1:n.25010-1729T>C
XM_017010618.1:c.24998-1729T>C	XP_016866107.1:n.24998-1729T>C
XM_017010619.1:c.23349T>C	XP_016866108.1:p.Asn7783=