Canonical Allele Identifier: CA4053161

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152149631A>G , CM000668.2:g.152149631A>G	GRCh38
NC_000006.11:g.152470766A>G , CM000668.1:g.152470766A>G	GRCh37
NC_000006.10:g.152512459A>G	NCBI36
NG_012855.1:g.492769T>C
NG_012855.2:g.492769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.953T>C MANE Plus Clinical	ENSP00000346701.4:p.Ile318Thr
ENST00000367255.10:c.24488T>C MANE Select	ENSP00000356224.5:p.Ile8163Thr
ENST00000423061.6:c.24275T>C	ENSP00000396024.1:p.Ile8092Thr
ENST00000672154.1:c.4T>C
ENST00000672169.1:c.223T>C
ENST00000673173.1:c.402T>C
ENST00000673451.1:c.260T>C	ENSP00000500189.1:p.Ile87Thr
ENST00000341594.9:c.23273T>C	ENSP00000341887.6:p.Ile7758Thr
ENST00000347037.9:n.1167T>C
ENST00000354674.4:c.953T>C	ENSP00000346701.4:p.Ile318Thr
ENST00000367251.7:c.3254T>C	ENSP00000356220.3:p.Ile1085Thr
ENST00000367255.9:c.24488T>C	ENSP00000356224.5:p.Ile8163Thr
ENST00000367256.9:n.8180T>C
ENST00000367257.8:c.2426T>C	ENSP00000356226.4:p.Ile809Thr
ENST00000409694.6:n.8072T>C
ENST00000423061.5:c.24275T>C	ENSP00000396024.1:p.Ile8092Thr
ENST00000460912.6:n.1033T>C
ENST00000476519.1:n.550T>C
ENST00000536990.5:n.1325T>C
ENST00000539504.5:c.953T>C	ENSP00000441052.1:p.Ile318Thr
NM_033071.3:c.24275T>C	NP_149062.1:p.Ile8092Thr
NM_182961.3:c.24488T>C	NP_892006.3:p.Ile8163Thr
XM_006715407.1:c.24524T>C	XP_006715470.1:p.Ile8175Thr
XM_006715408.1:c.24512T>C	XP_006715471.1:p.Ile8171Thr
XM_006715409.1:c.24503T>C	XP_006715472.1:p.Ile8168Thr
XM_006715410.1:c.24524T>C	XP_006715473.1:p.Ile8175Thr
XM_006715411.1:c.24473T>C	XP_006715474.1:p.Ile8158Thr
XM_006715412.1:c.24509T>C	XP_006715475.1:p.Ile8170Thr
XM_006715413.1:c.24524T>C	XP_006715476.1:p.Ile8175Thr
XM_006715414.1:c.24452T>C	XP_006715477.1:p.Ile8151Thr
XM_006715415.1:c.24524T>C	XP_006715478.1:p.Ile8175Thr
XM_006715416.1:c.24509T>C	XP_006715479.1:p.Ile8170Thr
XM_006715417.1:c.24383T>C	XP_006715480.1:p.Ile8128Thr
XM_006715420.1:c.24371T>C	XP_006715483.1:p.Ile8124Thr
XM_006715421.1:c.24368T>C	XP_006715484.1:p.Ile8123Thr
XM_006715422.1:c.24365T>C	XP_006715485.1:p.Ile8122Thr
XM_006715423.1:c.24524T>C	XP_006715486.1:p.Ile8175Thr
XM_006715424.1:c.24524T>C	XP_006715487.1:p.Ile8175Thr
XM_006715425.1:c.24524T>C	XP_006715488.1:p.Ile8175Thr
XM_011535641.1:c.24521T>C	XP_011533943.1:p.Ile8174Thr
XM_011535642.1:c.24509T>C	XP_011533944.1:p.Ile8170Thr
XM_011535643.1:c.24359T>C	XP_011533945.1:p.Ile8120Thr
XM_011535644.1:c.22799T>C	XP_011533946.1:p.Ile7600Thr
XM_011535645.1:c.22292T>C	XP_011533947.1:p.Ile7431Thr
XM_011535647.1:c.17759T>C	XP_011533949.1:p.Ile5920Thr
NM_001347701.1:c.1094T>C	NP_001334630.1:p.Ile365Thr
NM_001347702.1:c.953T>C	NP_001334631.1:p.Ile318Thr
XM_006715408.2:c.24512T>C	XP_006715471.1:p.Ile8171Thr
XM_006715410.2:c.24524T>C	XP_006715473.1:p.Ile8175Thr
XM_006715412.2:c.24509T>C	XP_006715475.1:p.Ile8170Thr
XM_006715413.2:c.24524T>C	XP_006715476.1:p.Ile8175Thr
XM_006715415.2:c.24524T>C	XP_006715478.1:p.Ile8175Thr
XM_006715416.2:c.24509T>C	XP_006715479.1:p.Ile8170Thr
XM_006715417.2:c.24383T>C	XP_006715480.1:p.Ile8128Thr
XM_006715420.2:c.24371T>C	XP_006715483.1:p.Ile8124Thr
XM_006715421.2:c.24368T>C	XP_006715484.1:p.Ile8123Thr
XM_006715423.2:c.24524T>C	XP_006715486.1:p.Ile8175Thr
XM_006715424.2:c.24524T>C	XP_006715487.1:p.Ile8175Thr
XM_006715425.2:c.24524T>C	XP_006715488.1:p.Ile8175Thr
XM_011535641.2:c.24521T>C	XP_011533943.1:p.Ile8174Thr
XM_011535642.2:c.24509T>C	XP_011533944.1:p.Ile8170Thr
XM_011535645.2:c.22292T>C	XP_011533947.1:p.Ile7431Thr
XM_017010608.1:c.24524T>C	XP_016866097.1:p.Ile8175Thr
XM_017010609.1:c.24524T>C	XP_016866098.1:p.Ile8175Thr
XM_017010610.1:c.24503T>C	XP_016866099.1:p.Ile8168Thr
XM_017010611.2:c.24497T>C	XP_016866100.1:p.Ile8166Thr
XM_017010612.1:c.24446T>C	XP_016866101.1:p.Ile8149Thr
XM_017010613.1:c.24521T>C	XP_016866102.1:p.Ile8174Thr
XM_017010614.1:c.24368T>C	XP_016866103.1:p.Ile8123Thr
XM_017010615.1:c.24368T>C	XP_016866104.1:p.Ile8123Thr
XM_017010616.1:c.24524T>C	XP_016866105.1:p.Ile8175Thr
XM_017010617.1:c.24521T>C	XP_016866106.1:p.Ile8174Thr
XM_017010618.1:c.24509T>C	XP_016866107.1:p.Ile8170Thr
XM_017010619.1:c.22799T>C	XP_016866108.1:p.Ile7600Thr
NM_182961.4:c.24488T>C MANE Select	NP_892006.3:p.Ile8163Thr
NM_001347701.2:c.1094T>C	NP_001334630.1:p.Ile365Thr
NM_001347702.2:c.953T>C MANE Plus Clinical	NP_001334631.1:p.Ile318Thr
NM_033071.5:c.24275T>C	NP_149062.2:p.Ile8092Thr