Canonical Allele Identifier: CA366111190

Gene: SYNE1

Linked Data

• dbSNP Id: rs1269356047
• gnomAD v2: 6-152716709-C-T
• gnomAD v4: 6-152395574-C-T
• MyVariant Identifiers: chr6:g.152716709C>T (hg19) ; chr6:g.152395574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152395574C>T , CM000668.2:g.152395574C>T	GRCh38
NC_000006.11:g.152716709C>T , CM000668.1:g.152716709C>T	GRCh37
NC_000006.10:g.152758402C>T	NCBI36
NG_012855.1:g.246826G>A
NG_012855.2:g.246826G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.7654G>A MANE Select	ENSP00000356224.5:p.Glu2552Lys
ENST00000423061.6:c.7675G>A	ENSP00000396024.1:p.Glu2559Lys
ENST00000341594.9:c.7720G>A	ENSP00000341887.6:p.Glu2574Lys
ENST00000367255.9:c.7654G>A	ENSP00000356224.5:p.Glu2552Lys
ENST00000423061.5:c.7675G>A	ENSP00000396024.1:p.Glu2559Lys
ENST00000461872.6:n.7872G>A
NM_033071.3:c.7675G>A	NP_149062.1:p.Glu2559Lys
NM_182961.3:c.7654G>A	NP_892006.3:p.Glu2552Lys
XM_006715407.1:c.7675G>A	XP_006715470.1:p.Glu2559Lys
XM_006715408.1:c.7675G>A	XP_006715471.1:p.Glu2559Lys
XM_006715409.1:c.7654G>A	XP_006715472.1:p.Glu2552Lys
XM_006715410.1:c.7675G>A	XP_006715473.1:p.Glu2559Lys
XM_006715411.1:c.7624G>A	XP_006715474.1:p.Glu2542Lys
XM_006715412.1:c.7675G>A	XP_006715475.1:p.Glu2559Lys
XM_006715413.1:c.7675G>A	XP_006715476.1:p.Glu2559Lys
XM_006715414.1:c.7603G>A	XP_006715477.1:p.Glu2535Lys
XM_006715415.1:c.7675G>A	XP_006715478.1:p.Glu2559Lys
XM_006715416.1:c.7675G>A	XP_006715479.1:p.Glu2559Lys
XM_006715417.1:c.7675G>A	XP_006715480.1:p.Glu2559Lys
XM_006715420.1:c.7675G>A	XP_006715483.1:p.Glu2559Lys
XM_006715421.1:c.7675G>A	XP_006715484.1:p.Glu2559Lys
XM_006715422.1:c.7516G>A	XP_006715485.1:p.Glu2506Lys
XM_006715423.1:c.7675G>A	XP_006715486.1:p.Glu2559Lys
XM_006715424.1:c.7675G>A	XP_006715487.1:p.Glu2559Lys
XM_006715425.1:c.7675G>A	XP_006715488.1:p.Glu2559Lys
XM_011535641.1:c.7675G>A	XP_011533943.1:p.Glu2559Lys
XM_011535642.1:c.7675G>A	XP_011533944.1:p.Glu2559Lys
XM_011535643.1:c.7510G>A	XP_011533945.1:p.Glu2504Lys
XM_011535644.1:c.5950G>A	XP_011533946.1:p.Glu1984Lys
XM_011535645.1:c.5443G>A	XP_011533947.1:p.Glu1815Lys
XM_011535646.1:c.7675G>A	XP_011533948.1:p.Glu2559Lys
XM_011535647.1:c.910G>A	XP_011533949.1:p.Glu304Lys
XM_006715408.2:c.7675G>A	XP_006715471.1:p.Glu2559Lys
XM_006715410.2:c.7675G>A	XP_006715473.1:p.Glu2559Lys
XM_006715412.2:c.7675G>A	XP_006715475.1:p.Glu2559Lys
XM_006715413.2:c.7675G>A	XP_006715476.1:p.Glu2559Lys
XM_006715415.2:c.7675G>A	XP_006715478.1:p.Glu2559Lys
XM_006715416.2:c.7675G>A	XP_006715479.1:p.Glu2559Lys
XM_006715417.2:c.7675G>A	XP_006715480.1:p.Glu2559Lys
XM_006715420.2:c.7675G>A	XP_006715483.1:p.Glu2559Lys
XM_006715421.2:c.7675G>A	XP_006715484.1:p.Glu2559Lys
XM_006715423.2:c.7675G>A	XP_006715486.1:p.Glu2559Lys
XM_006715424.2:c.7675G>A	XP_006715487.1:p.Glu2559Lys
XM_006715425.2:c.7675G>A	XP_006715488.1:p.Glu2559Lys
XM_011535641.2:c.7675G>A	XP_011533943.1:p.Glu2559Lys
XM_011535642.2:c.7675G>A	XP_011533944.1:p.Glu2559Lys
XM_011535645.2:c.5443G>A	XP_011533947.1:p.Glu1815Lys
XM_017010608.1:c.7675G>A	XP_016866097.1:p.Glu2559Lys
XM_017010609.1:c.7675G>A	XP_016866098.1:p.Glu2559Lys
XM_017010610.1:c.7654G>A	XP_016866099.1:p.Glu2552Lys
XM_017010611.2:c.7648G>A	XP_016866100.1:p.Glu2550Lys
XM_017010612.1:c.7597G>A	XP_016866101.1:p.Glu2533Lys
XM_017010613.1:c.7675G>A	XP_016866102.1:p.Glu2559Lys
XM_017010614.1:c.7675G>A	XP_016866103.1:p.Glu2559Lys
XM_017010615.1:c.7675G>A	XP_016866104.1:p.Glu2559Lys
XM_017010616.1:c.7675G>A	XP_016866105.1:p.Glu2559Lys
XM_017010617.1:c.7675G>A	XP_016866106.1:p.Glu2559Lys
XM_017010618.1:c.7675G>A	XP_016866107.1:p.Glu2559Lys
XM_017010619.1:c.5950G>A	XP_016866108.1:p.Glu1984Lys
XR_001743287.1:n.8158G>A
NM_182961.4:c.7654G>A MANE Select	NP_892006.3:p.Glu2552Lys
NM_033071.5:c.7675G>A	NP_149062.2:p.Glu2559Lys