Canonical Allele Identifier: CA366080857

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461261C>A (hg19) ; chr6:g.152140126C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140126C>A , CM000668.2:g.152140126C>A	GRCh38
NC_000006.11:g.152461261C>A , CM000668.1:g.152461261C>A	GRCh37
NC_000006.10:g.152502954C>A	NCBI36
NG_012855.1:g.502274G>T
NG_012855.2:g.502274G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1816G>T MANE Plus Clinical	ENSP00000346701.4:p.Ala606Ser
ENST00000367255.10:c.25282G>T MANE Select	ENSP00000356224.5:p.Ala8428Ser
ENST00000423061.6:c.25138G>T	ENSP00000396024.1:p.Ala8380Ser
ENST00000672154.1:c.684G>T
ENST00000672169.1:c.1017G>T
ENST00000673173.1:c.926G>T
ENST00000673451.1:c.1054G>T	ENSP00000500189.1:p.Ala352Ser
ENST00000341594.9:c.24067G>T	ENSP00000341887.6:p.Ala8023Ser
ENST00000347037.9:n.2030G>T
ENST00000354674.4:c.1816G>T	ENSP00000346701.4:p.Ala606Ser
ENST00000367251.7:c.4117G>T	ENSP00000356220.3:p.Ala1373Ser
ENST00000367255.9:c.25282G>T	ENSP00000356224.5:p.Ala8428Ser
ENST00000367256.9:n.8974G>T
ENST00000367257.8:c.3220G>T	ENSP00000356226.4:p.Ala1074Ser
ENST00000409694.6:n.8866G>T
ENST00000423061.5:c.25138G>T	ENSP00000396024.1:p.Ala8380Ser
ENST00000460912.6:n.1896G>T
ENST00000478916.5:n.4304G>T
ENST00000536990.5:n.2119G>T
ENST00000539504.5:c.1747G>T	ENSP00000441052.1:p.Ala583Ser
NM_033071.3:c.25138G>T	NP_149062.1:p.Ala8380Ser
NM_182961.3:c.25282G>T	NP_892006.3:p.Ala8428Ser
XM_006715407.1:c.25387G>T	XP_006715470.1:p.Ala8463Ser
XM_006715408.1:c.25375G>T	XP_006715471.1:p.Ala8459Ser
XM_006715409.1:c.25366G>T	XP_006715472.1:p.Ala8456Ser
XM_006715410.1:c.25387G>T	XP_006715473.1:p.Ala8463Ser
XM_006715411.1:c.25336G>T	XP_006715474.1:p.Ala8446Ser
XM_006715412.1:c.25372G>T	XP_006715475.1:p.Ala8458Ser
XM_006715413.1:c.25318G>T	XP_006715476.1:p.Ala8440Ser
XM_006715414.1:c.25315G>T	XP_006715477.1:p.Ala8439Ser
XM_006715415.1:c.25318G>T	XP_006715478.1:p.Ala8440Ser
XM_006715416.1:c.25303G>T	XP_006715479.1:p.Ala8435Ser
XM_006715417.1:c.25246G>T	XP_006715480.1:p.Ala8416Ser
XM_006715420.1:c.25234G>T	XP_006715483.1:p.Ala8412Ser
XM_006715421.1:c.25231G>T	XP_006715484.1:p.Ala8411Ser
XM_006715422.1:c.25228G>T	XP_006715485.1:p.Ala8410Ser
XM_006715423.1:c.25387G>T	XP_006715486.1:p.Ala8463Ser
XM_006715424.1:c.25387G>T	XP_006715487.1:p.Ala8463Ser
XM_006715425.1:c.25318G>T	XP_006715488.1:p.Ala8440Ser
XM_011535641.1:c.25384G>T	XP_011533943.1:p.Ala8462Ser
XM_011535642.1:c.25372G>T	XP_011533944.1:p.Ala8458Ser
XM_011535643.1:c.25222G>T	XP_011533945.1:p.Ala8408Ser
XM_011535644.1:c.23662G>T	XP_011533946.1:p.Ala7888Ser
XM_011535645.1:c.23155G>T	XP_011533947.1:p.Ala7719Ser
XM_011535647.1:c.18622G>T	XP_011533949.1:p.Ala6208Ser
NM_001347701.1:c.1888G>T	NP_001334630.1:p.Ala630Ser
NM_001347702.1:c.1816G>T	NP_001334631.1:p.Ala606Ser
XM_006715408.2:c.25375G>T	XP_006715471.1:p.Ala8459Ser
XM_006715410.2:c.25387G>T	XP_006715473.1:p.Ala8463Ser
XM_006715412.2:c.25372G>T	XP_006715475.1:p.Ala8458Ser
XM_006715413.2:c.25318G>T	XP_006715476.1:p.Ala8440Ser
XM_006715415.2:c.25318G>T	XP_006715478.1:p.Ala8440Ser
XM_006715416.2:c.25303G>T	XP_006715479.1:p.Ala8435Ser
XM_006715417.2:c.25246G>T	XP_006715480.1:p.Ala8416Ser
XM_006715420.2:c.25234G>T	XP_006715483.1:p.Ala8412Ser
XM_006715421.2:c.25231G>T	XP_006715484.1:p.Ala8411Ser
XM_006715423.2:c.25387G>T	XP_006715486.1:p.Ala8463Ser
XM_006715424.2:c.25387G>T	XP_006715487.1:p.Ala8463Ser
XM_006715425.2:c.25318G>T	XP_006715488.1:p.Ala8440Ser
XM_011535641.2:c.25384G>T	XP_011533943.1:p.Ala8462Ser
XM_011535642.2:c.25372G>T	XP_011533944.1:p.Ala8458Ser
XM_011535645.2:c.23155G>T	XP_011533947.1:p.Ala7719Ser
XM_017010608.1:c.25387G>T	XP_016866097.1:p.Ala8463Ser
XM_017010609.1:c.25387G>T	XP_016866098.1:p.Ala8463Ser
XM_017010610.1:c.25366G>T	XP_016866099.1:p.Ala8456Ser
XM_017010611.2:c.25360G>T	XP_016866100.1:p.Ala8454Ser
XM_017010612.1:c.25309G>T	XP_016866101.1:p.Ala8437Ser
XM_017010613.1:c.25315G>T	XP_016866102.1:p.Ala8439Ser
XM_017010614.1:c.25231G>T	XP_016866103.1:p.Ala8411Ser
XM_017010615.1:c.25162G>T	XP_016866104.1:p.Ala8388Ser
XM_017010616.1:c.25318G>T	XP_016866105.1:p.Ala8440Ser
XM_017010617.1:c.25315G>T	XP_016866106.1:p.Ala8439Ser
XM_017010618.1:c.25303G>T	XP_016866107.1:p.Ala8435Ser
XM_017010619.1:c.23662G>T	XP_016866108.1:p.Ala7888Ser
NM_182961.4:c.25282G>T MANE Select	NP_892006.3:p.Ala8428Ser
NM_001347701.2:c.1888G>T	NP_001334630.1:p.Ala630Ser
NM_001347702.2:c.1816G>T MANE Plus Clinical	NP_001334631.1:p.Ala606Ser
NM_033071.5:c.25138G>T	NP_149062.2:p.Ala8380Ser