Canonical Allele Identifier: CA366096967

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152605116C>A (hg19) ; chr6:g.152283981C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152283981C>A , CM000668.2:g.152283981C>A	GRCh38
NC_000006.11:g.152605116C>A , CM000668.1:g.152605116C>A	GRCh37
NC_000006.10:g.152646809C>A	NCBI36
NG_012855.1:g.358419G>T
NG_012855.2:g.358419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.18204G>T MANE Select	ENSP00000356224.5:p.Leu6068Phe
ENST00000423061.6:c.17991G>T	ENSP00000396024.1:p.Leu5997Phe
ENST00000341594.9:c.16989G>T	ENSP00000341887.6:p.Leu5663Phe
ENST00000367255.9:c.18204G>T	ENSP00000356224.5:p.Leu6068Phe
ENST00000367256.9:n.1896G>T
ENST00000409694.6:n.1788G>T
ENST00000423061.5:c.17991G>T	ENSP00000396024.1:p.Leu5997Phe
ENST00000489156.1:n.935G>T
NM_033071.3:c.17991G>T	NP_149062.1:p.Leu5997Phe
NM_182961.3:c.18204G>T	NP_892006.3:p.Leu6068Phe
XM_006715407.1:c.18237G>T	XP_006715470.1:p.Leu6079Phe
XM_006715408.1:c.18225G>T	XP_006715471.1:p.Leu6075Phe
XM_006715409.1:c.18216G>T	XP_006715472.1:p.Leu6072Phe
XM_006715410.1:c.18237G>T	XP_006715473.1:p.Leu6079Phe
XM_006715411.1:c.18186G>T	XP_006715474.1:p.Leu6062Phe
XM_006715412.1:c.18225G>T	XP_006715475.1:p.Leu6075Phe
XM_006715413.1:c.18237G>T	XP_006715476.1:p.Leu6079Phe
XM_006715414.1:c.18165G>T	XP_006715477.1:p.Leu6055Phe
XM_006715415.1:c.18237G>T	XP_006715478.1:p.Leu6079Phe
XM_006715416.1:c.18225G>T	XP_006715479.1:p.Leu6075Phe
XM_006715417.1:c.18096G>T	XP_006715480.1:p.Leu6032Phe
XM_006715420.1:c.18084G>T	XP_006715483.1:p.Leu6028Phe
XM_006715421.1:c.18081G>T	XP_006715484.1:p.Leu6027Phe
XM_006715422.1:c.18078G>T	XP_006715485.1:p.Leu6026Phe
XM_006715423.1:c.18237G>T	XP_006715486.1:p.Leu6079Phe
XM_006715424.1:c.18237G>T	XP_006715487.1:p.Leu6079Phe
XM_006715425.1:c.18237G>T	XP_006715488.1:p.Leu6079Phe
XM_011535641.1:c.18237G>T	XP_011533943.1:p.Leu6079Phe
XM_011535642.1:c.18225G>T	XP_011533944.1:p.Leu6075Phe
XM_011535643.1:c.18072G>T	XP_011533945.1:p.Leu6024Phe
XM_011535644.1:c.16512G>T	XP_011533946.1:p.Leu5504Phe
XM_011535645.1:c.16005G>T	XP_011533947.1:p.Leu5335Phe
XM_011535646.1:c.18237G>T	XP_011533948.1:p.Leu6079Phe
XM_011535647.1:c.11472G>T	XP_011533949.1:p.Leu3824Phe
XM_006715408.2:c.18225G>T	XP_006715471.1:p.Leu6075Phe
XM_006715410.2:c.18237G>T	XP_006715473.1:p.Leu6079Phe
XM_006715412.2:c.18225G>T	XP_006715475.1:p.Leu6075Phe
XM_006715413.2:c.18237G>T	XP_006715476.1:p.Leu6079Phe
XM_006715415.2:c.18237G>T	XP_006715478.1:p.Leu6079Phe
XM_006715416.2:c.18225G>T	XP_006715479.1:p.Leu6075Phe
XM_006715417.2:c.18096G>T	XP_006715480.1:p.Leu6032Phe
XM_006715420.2:c.18084G>T	XP_006715483.1:p.Leu6028Phe
XM_006715421.2:c.18081G>T	XP_006715484.1:p.Leu6027Phe
XM_006715423.2:c.18237G>T	XP_006715486.1:p.Leu6079Phe
XM_006715424.2:c.18237G>T	XP_006715487.1:p.Leu6079Phe
XM_006715425.2:c.18237G>T	XP_006715488.1:p.Leu6079Phe
XM_011535641.2:c.18237G>T	XP_011533943.1:p.Leu6079Phe
XM_011535642.2:c.18225G>T	XP_011533944.1:p.Leu6075Phe
XM_011535645.2:c.16005G>T	XP_011533947.1:p.Leu5335Phe
XM_017010608.1:c.18237G>T	XP_016866097.1:p.Leu6079Phe
XM_017010609.1:c.18237G>T	XP_016866098.1:p.Leu6079Phe
XM_017010610.1:c.18216G>T	XP_016866099.1:p.Leu6072Phe
XM_017010611.2:c.18210G>T	XP_016866100.1:p.Leu6070Phe
XM_017010612.1:c.18159G>T	XP_016866101.1:p.Leu6053Phe
XM_017010613.1:c.18237G>T	XP_016866102.1:p.Leu6079Phe
XM_017010614.1:c.18084G>T	XP_016866103.1:p.Leu6028Phe
XM_017010615.1:c.18084G>T	XP_016866104.1:p.Leu6028Phe
XM_017010616.1:c.18237G>T	XP_016866105.1:p.Leu6079Phe
XM_017010617.1:c.18237G>T	XP_016866106.1:p.Leu6079Phe
XM_017010618.1:c.18225G>T	XP_016866107.1:p.Leu6075Phe
XM_017010619.1:c.16512G>T	XP_016866108.1:p.Leu5504Phe
XR_001743287.1:n.18720G>T
NM_182961.4:c.18204G>T MANE Select	NP_892006.3:p.Leu6068Phe
NM_033071.5:c.17991G>T	NP_149062.2:p.Leu5997Phe