Canonical Allele Identifier: CA4058540

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152430694T>C , CM000668.2:g.152430694T>C	GRCh38
NC_000006.11:g.152751829T>C , CM000668.1:g.152751829T>C	GRCh37
NC_000006.10:g.152793522T>C	NCBI36
NG_012855.1:g.211706A>G
NG_012855.2:g.211706A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.4477A>G MANE Select	NP_892006.3:p.Ile1493Val
ENST00000367255.10:c.4477A>G MANE Select	ENSP00000356224.5:p.Ile1493Val
NM_033071.3:c.4498A>G	NP_149062.1:p.Ile1500Val
NM_033071.5:c.4498A>G	NP_149062.2:p.Ile1500Val
NM_182961.3:c.4477A>G	NP_892006.3:p.Ile1493Val
ENST00000341594.9:c.4636A>G	ENSP00000341887.6:p.Ile1546Val
ENST00000367253.8:c.4477A>G	ENSP00000356222.4:p.Ile1493Val
ENST00000367255.9:c.4477A>G	ENSP00000356224.5:p.Ile1493Val
ENST00000423061.5:c.4498A>G	ENSP00000396024.1:p.Ile1500Val
ENST00000423061.6:c.4498A>G	ENSP00000396024.1:p.Ile1500Val
ENST00000461872.6:n.4695A>G
ENST00000673281.1:c.4471A>G	ENSP00000500893.1:p.Ile1491Val
XM_006715407.1:c.4498A>G	XP_006715470.1:p.Ile1500Val
XM_006715408.1:c.4498A>G	XP_006715471.1:p.Ile1500Val
XM_006715408.2:c.4498A>G	XP_006715471.1:p.Ile1500Val
XM_006715409.1:c.4477A>G	XP_006715472.1:p.Ile1493Val
XM_006715410.1:c.4498A>G	XP_006715473.1:p.Ile1500Val
XM_006715410.2:c.4498A>G	XP_006715473.1:p.Ile1500Val
XM_006715411.1:c.4447A>G	XP_006715474.1:p.Ile1483Val
XM_006715412.1:c.4498A>G	XP_006715475.1:p.Ile1500Val
XM_006715412.2:c.4498A>G	XP_006715475.1:p.Ile1500Val
XM_006715413.1:c.4498A>G	XP_006715476.1:p.Ile1500Val
XM_006715413.2:c.4498A>G	XP_006715476.1:p.Ile1500Val
XM_006715414.1:c.4426A>G	XP_006715477.1:p.Ile1476Val
XM_006715415.1:c.4498A>G	XP_006715478.1:p.Ile1500Val
XM_006715415.2:c.4498A>G	XP_006715478.1:p.Ile1500Val
XM_006715416.1:c.4498A>G	XP_006715479.1:p.Ile1500Val
XM_006715416.2:c.4498A>G	XP_006715479.1:p.Ile1500Val
XM_006715417.1:c.4498A>G	XP_006715480.1:p.Ile1500Val
XM_006715417.2:c.4498A>G	XP_006715480.1:p.Ile1500Val
XM_006715420.1:c.4498A>G	XP_006715483.1:p.Ile1500Val
XM_006715420.2:c.4498A>G	XP_006715483.1:p.Ile1500Val
XM_006715421.1:c.4498A>G	XP_006715484.1:p.Ile1500Val
XM_006715421.2:c.4498A>G	XP_006715484.1:p.Ile1500Val
XM_006715422.1:c.4339A>G	XP_006715485.1:p.Ile1447Val
XM_006715423.1:c.4498A>G	XP_006715486.1:p.Ile1500Val
XM_006715423.2:c.4498A>G	XP_006715486.1:p.Ile1500Val
XM_006715424.1:c.4498A>G	XP_006715487.1:p.Ile1500Val
XM_006715424.2:c.4498A>G	XP_006715487.1:p.Ile1500Val
XM_006715425.1:c.4498A>G	XP_006715488.1:p.Ile1500Val
XM_006715425.2:c.4498A>G	XP_006715488.1:p.Ile1500Val
XM_011535641.1:c.4498A>G	XP_011533943.1:p.Ile1500Val
XM_011535641.2:c.4498A>G	XP_011533943.1:p.Ile1500Val
XM_011535642.1:c.4498A>G	XP_011533944.1:p.Ile1500Val
XM_011535642.2:c.4498A>G	XP_011533944.1:p.Ile1500Val
XM_011535643.1:c.4333A>G	XP_011533945.1:p.Ile1445Val
XM_011535644.1:c.2773A>G	XP_011533946.1:p.Ile925Val
XM_011535645.1:c.2266A>G	XP_011533947.1:p.Ile756Val
XM_011535645.2:c.2266A>G	XP_011533947.1:p.Ile756Val
XM_011535646.1:c.4498A>G	XP_011533948.1:p.Ile1500Val
XM_017010608.1:c.4498A>G	XP_016866097.1:p.Ile1500Val
XM_017010609.1:c.4498A>G	XP_016866098.1:p.Ile1500Val
XM_017010610.1:c.4477A>G	XP_016866099.1:p.Ile1493Val
XM_017010611.2:c.4471A>G	XP_016866100.1:p.Ile1491Val
XM_017010612.1:c.4420A>G	XP_016866101.1:p.Ile1474Val
XM_017010613.1:c.4498A>G	XP_016866102.1:p.Ile1500Val
XM_017010614.1:c.4498A>G	XP_016866103.1:p.Ile1500Val
XM_017010615.1:c.4498A>G	XP_016866104.1:p.Ile1500Val
XM_017010616.1:c.4498A>G	XP_016866105.1:p.Ile1500Val
XM_017010617.1:c.4498A>G	XP_016866106.1:p.Ile1500Val
XM_017010618.1:c.4498A>G	XP_016866107.1:p.Ile1500Val
XM_017010619.1:c.2773A>G	XP_016866108.1:p.Ile925Val
XR_001743287.1:n.4981A>G