Canonical Allele Identifier: CA366138244

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 1676047
• ClinVar RCV Id: RCV002214416
• dbSNP Id: rs780991031
• MyVariant Identifiers: chr6:g.152690632T>C (hg19) ; chr6:g.152369497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152369497T>C , CM000668.2:g.152369497T>C	GRCh38
NC_000006.11:g.152690632T>C , CM000668.1:g.152690632T>C	GRCh37
NC_000006.10:g.152732325T>C	NCBI36
NG_012855.1:g.272903A>G
NG_012855.2:g.272903A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000454018.7:c.976A>G	ENSP00000390858.4:p.Lys326Glu
ENST00000367255.10:c.9625A>G MANE Select	ENSP00000356224.5:p.Lys3209Glu
ENST00000423061.6:c.9646A>G	ENSP00000396024.1:p.Lys3216Glu
ENST00000341594.9:c.9691A>G	ENSP00000341887.6:p.Lys3231Glu
ENST00000367255.9:c.9625A>G	ENSP00000356224.5:p.Lys3209Glu
ENST00000423061.5:c.9646A>G	ENSP00000396024.1:p.Lys3216Glu
ENST00000454018.6:c.973A>G	ENSP00000390858.3:p.Lys325Glu
ENST00000469439.1:c.218A>G
ENST00000471834.1:n.831A>G
NM_033071.3:c.9646A>G	NP_149062.1:p.Lys3216Glu
NM_182961.3:c.9625A>G	NP_892006.3:p.Lys3209Glu
XM_006715407.1:c.9646A>G	XP_006715470.1:p.Lys3216Glu
XM_006715408.1:c.9646A>G	XP_006715471.1:p.Lys3216Glu
XM_006715409.1:c.9625A>G	XP_006715472.1:p.Lys3209Glu
XM_006715410.1:c.9646A>G	XP_006715473.1:p.Lys3216Glu
XM_006715411.1:c.9595A>G	XP_006715474.1:p.Lys3199Glu
XM_006715412.1:c.9646A>G	XP_006715475.1:p.Lys3216Glu
XM_006715413.1:c.9646A>G	XP_006715476.1:p.Lys3216Glu
XM_006715414.1:c.9574A>G	XP_006715477.1:p.Lys3192Glu
XM_006715415.1:c.9646A>G	XP_006715478.1:p.Lys3216Glu
XM_006715416.1:c.9646A>G	XP_006715479.1:p.Lys3216Glu
XM_006715417.1:c.9646A>G	XP_006715480.1:p.Lys3216Glu
XM_006715420.1:c.9646A>G	XP_006715483.1:p.Lys3216Glu
XM_006715421.1:c.9646A>G	XP_006715484.1:p.Lys3216Glu
XM_006715422.1:c.9487A>G	XP_006715485.1:p.Lys3163Glu
XM_006715423.1:c.9646A>G	XP_006715486.1:p.Lys3216Glu
XM_006715424.1:c.9646A>G	XP_006715487.1:p.Lys3216Glu
XM_006715425.1:c.9646A>G	XP_006715488.1:p.Lys3216Glu
XM_011535641.1:c.9646A>G	XP_011533943.1:p.Lys3216Glu
XM_011535642.1:c.9646A>G	XP_011533944.1:p.Lys3216Glu
XM_011535643.1:c.9481A>G	XP_011533945.1:p.Lys3161Glu
XM_011535644.1:c.7921A>G	XP_011533946.1:p.Lys2641Glu
XM_011535645.1:c.7414A>G	XP_011533947.1:p.Lys2472Glu
XM_011535646.1:c.9646A>G	XP_011533948.1:p.Lys3216Glu
XM_011535647.1:c.2881A>G	XP_011533949.1:p.Lys961Glu
XM_006715408.2:c.9646A>G	XP_006715471.1:p.Lys3216Glu
XM_006715410.2:c.9646A>G	XP_006715473.1:p.Lys3216Glu
XM_006715412.2:c.9646A>G	XP_006715475.1:p.Lys3216Glu
XM_006715413.2:c.9646A>G	XP_006715476.1:p.Lys3216Glu
XM_006715415.2:c.9646A>G	XP_006715478.1:p.Lys3216Glu
XM_006715416.2:c.9646A>G	XP_006715479.1:p.Lys3216Glu
XM_006715417.2:c.9646A>G	XP_006715480.1:p.Lys3216Glu
XM_006715420.2:c.9646A>G	XP_006715483.1:p.Lys3216Glu
XM_006715421.2:c.9646A>G	XP_006715484.1:p.Lys3216Glu
XM_006715423.2:c.9646A>G	XP_006715486.1:p.Lys3216Glu
XM_006715424.2:c.9646A>G	XP_006715487.1:p.Lys3216Glu
XM_006715425.2:c.9646A>G	XP_006715488.1:p.Lys3216Glu
XM_011535641.2:c.9646A>G	XP_011533943.1:p.Lys3216Glu
XM_011535642.2:c.9646A>G	XP_011533944.1:p.Lys3216Glu
XM_011535645.2:c.7414A>G	XP_011533947.1:p.Lys2472Glu
XM_017010608.1:c.9646A>G	XP_016866097.1:p.Lys3216Glu
XM_017010609.1:c.9646A>G	XP_016866098.1:p.Lys3216Glu
XM_017010610.1:c.9625A>G	XP_016866099.1:p.Lys3209Glu
XM_017010611.2:c.9619A>G	XP_016866100.1:p.Lys3207Glu
XM_017010612.1:c.9568A>G	XP_016866101.1:p.Lys3190Glu
XM_017010613.1:c.9646A>G	XP_016866102.1:p.Lys3216Glu
XM_017010614.1:c.9646A>G	XP_016866103.1:p.Lys3216Glu
XM_017010615.1:c.9646A>G	XP_016866104.1:p.Lys3216Glu
XM_017010616.1:c.9646A>G	XP_016866105.1:p.Lys3216Glu
XM_017010617.1:c.9646A>G	XP_016866106.1:p.Lys3216Glu
XM_017010618.1:c.9646A>G	XP_016866107.1:p.Lys3216Glu
XM_017010619.1:c.7921A>G	XP_016866108.1:p.Lys2641Glu
XR_001743287.1:n.10129A>G
NM_182961.4:c.9625A>G MANE Select	NP_892006.3:p.Lys3209Glu
NM_033071.5:c.9646A>G	NP_149062.2:p.Lys3216Glu