Canonical Allele Identifier: CA452969794

Gene: SYNE1

Linked Data

• dbSNP Id: rs2152799065
• MyVariant Identifiers: chr6:g.152461085C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139950C>T , CM000668.2:g.152139950C>T	GRCh38
NC_000006.11:g.152461085C>T , CM000668.1:g.152461085C>T	GRCh37
NC_000006.10:g.152502778C>T	NCBI36
NG_012855.1:g.502450G>A
NG_012855.2:g.502450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1992G>A MANE Plus Clinical	ENSP00000346701.4:p.Lys664=
ENST00000367255.10:c.25458G>A MANE Select	ENSP00000356224.5:p.Lys8486=
ENST00000423061.6:c.25314G>A	ENSP00000396024.1:p.Lys8438=
ENST00000672154.1:c.860G>A
ENST00000672169.1:c.1193G>A
ENST00000673173.1:c.1102G>A
ENST00000673451.1:c.1230G>A	ENSP00000500189.1:p.Lys410=
ENST00000341594.9:c.24243G>A	ENSP00000341887.6:p.Lys8081=
ENST00000347037.9:n.2206G>A
ENST00000354674.4:c.1992G>A	ENSP00000346701.4:p.Lys664=
ENST00000367251.7:c.4293G>A	ENSP00000356220.3:p.Lys1431=
ENST00000367255.9:c.25458G>A	ENSP00000356224.5:p.Lys8486=
ENST00000367256.9:n.9150G>A
ENST00000367257.8:c.3396G>A	ENSP00000356226.4:p.Lys1132=
ENST00000409694.6:n.9042G>A
ENST00000423061.5:c.25314G>A	ENSP00000396024.1:p.Lys8438=
ENST00000460912.6:n.2072G>A
ENST00000478916.5:n.4480G>A
ENST00000536990.5:n.2295G>A
ENST00000539504.5:c.1923G>A	ENSP00000441052.1:p.Lys641=
NM_033071.3:c.25314G>A	NP_149062.1:p.Lys8438=
NM_182961.3:c.25458G>A	NP_892006.3:p.Lys8486=
XM_006715407.1:c.25563G>A	XP_006715470.1:p.Lys8521=
XM_006715408.1:c.25551G>A	XP_006715471.1:p.Lys8517=
XM_006715409.1:c.25542G>A	XP_006715472.1:p.Lys8514=
XM_006715410.1:c.25563G>A	XP_006715473.1:p.Lys8521=
XM_006715411.1:c.25512G>A	XP_006715474.1:p.Lys8504=
XM_006715412.1:c.25548G>A	XP_006715475.1:p.Lys8516=
XM_006715413.1:c.25494G>A	XP_006715476.1:p.Lys8498=
XM_006715414.1:c.25491G>A	XP_006715477.1:p.Lys8497=
XM_006715415.1:c.25494G>A	XP_006715478.1:p.Lys8498=
XM_006715416.1:c.25479G>A	XP_006715479.1:p.Lys8493=
XM_006715417.1:c.25422G>A	XP_006715480.1:p.Lys8474=
XM_006715420.1:c.25410G>A	XP_006715483.1:p.Lys8470=
XM_006715421.1:c.25407G>A	XP_006715484.1:p.Lys8469=
XM_006715422.1:c.25404G>A	XP_006715485.1:p.Lys8468=
XM_006715423.1:c.25563G>A	XP_006715486.1:p.Lys8521=
XM_006715424.1:c.25563G>A	XP_006715487.1:p.Lys8521=
XM_006715425.1:c.25494G>A	XP_006715488.1:p.Lys8498=
XM_011535641.1:c.25560G>A	XP_011533943.1:p.Lys8520=
XM_011535642.1:c.25548G>A	XP_011533944.1:p.Lys8516=
XM_011535643.1:c.25398G>A	XP_011533945.1:p.Lys8466=
XM_011535644.1:c.23838G>A	XP_011533946.1:p.Lys7946=
XM_011535645.1:c.23331G>A	XP_011533947.1:p.Lys7777=
XM_011535647.1:c.18798G>A	XP_011533949.1:p.Lys6266=
NM_001347701.1:c.2064G>A	NP_001334630.1:p.Lys688=
NM_001347702.1:c.1992G>A	NP_001334631.1:p.Lys664=
XM_006715408.2:c.25551G>A	XP_006715471.1:p.Lys8517=
XM_006715410.2:c.25563G>A	XP_006715473.1:p.Lys8521=
XM_006715412.2:c.25548G>A	XP_006715475.1:p.Lys8516=
XM_006715413.2:c.25494G>A	XP_006715476.1:p.Lys8498=
XM_006715415.2:c.25494G>A	XP_006715478.1:p.Lys8498=
XM_006715416.2:c.25479G>A	XP_006715479.1:p.Lys8493=
XM_006715417.2:c.25422G>A	XP_006715480.1:p.Lys8474=
XM_006715420.2:c.25410G>A	XP_006715483.1:p.Lys8470=
XM_006715421.2:c.25407G>A	XP_006715484.1:p.Lys8469=
XM_006715423.2:c.25563G>A	XP_006715486.1:p.Lys8521=
XM_006715424.2:c.25563G>A	XP_006715487.1:p.Lys8521=
XM_006715425.2:c.25494G>A	XP_006715488.1:p.Lys8498=
XM_011535641.2:c.25560G>A	XP_011533943.1:p.Lys8520=
XM_011535642.2:c.25548G>A	XP_011533944.1:p.Lys8516=
XM_011535645.2:c.23331G>A	XP_011533947.1:p.Lys7777=
XM_017010608.1:c.25563G>A	XP_016866097.1:p.Lys8521=
XM_017010609.1:c.25563G>A	XP_016866098.1:p.Lys8521=
XM_017010610.1:c.25542G>A	XP_016866099.1:p.Lys8514=
XM_017010611.2:c.25536G>A	XP_016866100.1:p.Lys8512=
XM_017010612.1:c.25485G>A	XP_016866101.1:p.Lys8495=
XM_017010613.1:c.25491G>A	XP_016866102.1:p.Lys8497=
XM_017010614.1:c.25407G>A	XP_016866103.1:p.Lys8469=
XM_017010615.1:c.25338G>A	XP_016866104.1:p.Lys8446=
XM_017010616.1:c.25494G>A	XP_016866105.1:p.Lys8498=
XM_017010617.1:c.25491G>A	XP_016866106.1:p.Lys8497=
XM_017010618.1:c.25479G>A	XP_016866107.1:p.Lys8493=
XM_017010619.1:c.23838G>A	XP_016866108.1:p.Lys7946=
NM_182961.4:c.25458G>A MANE Select	NP_892006.3:p.Lys8486=
NM_001347701.2:c.2064G>A	NP_001334630.1:p.Lys688=
NM_001347702.2:c.1992G>A MANE Plus Clinical	NP_001334631.1:p.Lys664=
NM_033071.5:c.25314G>A	NP_149062.2:p.Lys8438=