Canonical Allele Identifier: CA366099312

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152213689-C-T
• COSMIC: COSM5048828 ; COSM5048829 ; COSM5048830 ; COSM5048831 ; COSM5048832
• MyVariant Identifiers: chr6:g.152534824C>T (hg19) ; chr6:g.152213689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213689C>T , CM000668.2:g.152213689C>T	GRCh38
NC_000006.11:g.152534824C>T , CM000668.1:g.152534824C>T	GRCh37
NC_000006.10:g.152576517C>T	NCBI36
NG_012855.1:g.428711G>A
NG_012855.2:g.428711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22417G>A MANE Select	ENSP00000356224.5:p.Val7473Ile
ENST00000423061.6:c.22204G>A	ENSP00000396024.1:p.Val7402Ile
ENST00000341594.9:c.21202G>A	ENSP00000341887.6:p.Val7068Ile
ENST00000367251.7:c.1183G>A	ENSP00000356220.3:p.Val395Ile
ENST00000367255.9:c.22417G>A	ENSP00000356224.5:p.Val7473Ile
ENST00000367256.9:n.6109G>A
ENST00000367257.8:c.355G>A	ENSP00000356226.4:p.Val119Ile
ENST00000409694.6:n.6001G>A
ENST00000423061.5:c.22204G>A	ENSP00000396024.1:p.Val7402Ile
NM_033071.3:c.22204G>A	NP_149062.1:p.Val7402Ile
NM_182961.3:c.22417G>A	NP_892006.3:p.Val7473Ile
XM_006715407.1:c.22453G>A	XP_006715470.1:p.Val7485Ile
XM_006715408.1:c.22441G>A	XP_006715471.1:p.Val7481Ile
XM_006715409.1:c.22432G>A	XP_006715472.1:p.Val7478Ile
XM_006715410.1:c.22453G>A	XP_006715473.1:p.Val7485Ile
XM_006715411.1:c.22402G>A	XP_006715474.1:p.Val7468Ile
XM_006715412.1:c.22438G>A	XP_006715475.1:p.Val7480Ile
XM_006715413.1:c.22453G>A	XP_006715476.1:p.Val7485Ile
XM_006715414.1:c.22381G>A	XP_006715477.1:p.Val7461Ile
XM_006715415.1:c.22453G>A	XP_006715478.1:p.Val7485Ile
XM_006715416.1:c.22438G>A	XP_006715479.1:p.Val7480Ile
XM_006715417.1:c.22312G>A	XP_006715480.1:p.Val7438Ile
XM_006715420.1:c.22300G>A	XP_006715483.1:p.Val7434Ile
XM_006715421.1:c.22297G>A	XP_006715484.1:p.Val7433Ile
XM_006715422.1:c.22294G>A	XP_006715485.1:p.Val7432Ile
XM_006715423.1:c.22453G>A	XP_006715486.1:p.Val7485Ile
XM_006715424.1:c.22453G>A	XP_006715487.1:p.Val7485Ile
XM_006715425.1:c.22453G>A	XP_006715488.1:p.Val7485Ile
XM_011535641.1:c.22450G>A	XP_011533943.1:p.Val7484Ile
XM_011535642.1:c.22438G>A	XP_011533944.1:p.Val7480Ile
XM_011535643.1:c.22288G>A	XP_011533945.1:p.Val7430Ile
XM_011535644.1:c.20728G>A	XP_011533946.1:p.Val6910Ile
XM_011535645.1:c.20221G>A	XP_011533947.1:p.Val6741Ile
XM_011535647.1:c.15688G>A	XP_011533949.1:p.Val5230Ile
XM_006715408.2:c.22441G>A	XP_006715471.1:p.Val7481Ile
XM_006715410.2:c.22453G>A	XP_006715473.1:p.Val7485Ile
XM_006715412.2:c.22438G>A	XP_006715475.1:p.Val7480Ile
XM_006715413.2:c.22453G>A	XP_006715476.1:p.Val7485Ile
XM_006715415.2:c.22453G>A	XP_006715478.1:p.Val7485Ile
XM_006715416.2:c.22438G>A	XP_006715479.1:p.Val7480Ile
XM_006715417.2:c.22312G>A	XP_006715480.1:p.Val7438Ile
XM_006715420.2:c.22300G>A	XP_006715483.1:p.Val7434Ile
XM_006715421.2:c.22297G>A	XP_006715484.1:p.Val7433Ile
XM_006715423.2:c.22453G>A	XP_006715486.1:p.Val7485Ile
XM_006715424.2:c.22453G>A	XP_006715487.1:p.Val7485Ile
XM_006715425.2:c.22453G>A	XP_006715488.1:p.Val7485Ile
XM_011535641.2:c.22450G>A	XP_011533943.1:p.Val7484Ile
XM_011535642.2:c.22438G>A	XP_011533944.1:p.Val7480Ile
XM_011535645.2:c.20221G>A	XP_011533947.1:p.Val6741Ile
XM_017010608.1:c.22453G>A	XP_016866097.1:p.Val7485Ile
XM_017010609.1:c.22453G>A	XP_016866098.1:p.Val7485Ile
XM_017010610.1:c.22432G>A	XP_016866099.1:p.Val7478Ile
XM_017010611.2:c.22426G>A	XP_016866100.1:p.Val7476Ile
XM_017010612.1:c.22375G>A	XP_016866101.1:p.Val7459Ile
XM_017010613.1:c.22450G>A	XP_016866102.1:p.Val7484Ile
XM_017010614.1:c.22297G>A	XP_016866103.1:p.Val7433Ile
XM_017010615.1:c.22297G>A	XP_016866104.1:p.Val7433Ile
XM_017010616.1:c.22453G>A	XP_016866105.1:p.Val7485Ile
XM_017010617.1:c.22450G>A	XP_016866106.1:p.Val7484Ile
XM_017010618.1:c.22438G>A	XP_016866107.1:p.Val7480Ile
XM_017010619.1:c.20728G>A	XP_016866108.1:p.Val6910Ile
NM_182961.4:c.22417G>A MANE Select	NP_892006.3:p.Val7473Ile
NM_033071.5:c.22204G>A	NP_149062.2:p.Val7402Ile