Canonical Allele Identifier: CA4058016

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152407017A>G , CM000668.2:g.152407017A>G	GRCh38
NC_000006.11:g.152728152A>G , CM000668.1:g.152728152A>G	GRCh37
NC_000006.10:g.152769845A>G	NCBI36
NG_012855.1:g.235383T>C
NG_012855.2:g.235383T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.6720T>C MANE Select	NP_892006.3:p.Phe2240=
ENST00000367255.10:c.6720T>C MANE Select	ENSP00000356224.5:p.Phe2240=
NM_033071.3:c.6741T>C	NP_149062.1:p.Phe2247=
NM_033071.5:c.6741T>C	NP_149062.2:p.Phe2247=
NM_182961.3:c.6720T>C	NP_892006.3:p.Phe2240=
ENST00000341594.9:c.6780T>C	ENSP00000341887.6:p.Phe2260=
ENST00000367255.9:c.6720T>C	ENSP00000356224.5:p.Phe2240=
ENST00000423061.5:c.6741T>C	ENSP00000396024.1:p.Phe2247=
ENST00000423061.6:c.6741T>C	ENSP00000396024.1:p.Phe2247=
ENST00000461872.6:n.6938T>C
ENST00000535081.1:n.417T>C
XM_006715407.1:c.6741T>C	XP_006715470.1:p.Phe2247=
XM_006715408.1:c.6741T>C	XP_006715471.1:p.Phe2247=
XM_006715408.2:c.6741T>C	XP_006715471.1:p.Phe2247=
XM_006715409.1:c.6720T>C	XP_006715472.1:p.Phe2240=
XM_006715410.1:c.6741T>C	XP_006715473.1:p.Phe2247=
XM_006715410.2:c.6741T>C	XP_006715473.1:p.Phe2247=
XM_006715411.1:c.6690T>C	XP_006715474.1:p.Phe2230=
XM_006715412.1:c.6741T>C	XP_006715475.1:p.Phe2247=
XM_006715412.2:c.6741T>C	XP_006715475.1:p.Phe2247=
XM_006715413.1:c.6741T>C	XP_006715476.1:p.Phe2247=
XM_006715413.2:c.6741T>C	XP_006715476.1:p.Phe2247=
XM_006715414.1:c.6669T>C	XP_006715477.1:p.Phe2223=
XM_006715415.1:c.6741T>C	XP_006715478.1:p.Phe2247=
XM_006715415.2:c.6741T>C	XP_006715478.1:p.Phe2247=
XM_006715416.1:c.6741T>C	XP_006715479.1:p.Phe2247=
XM_006715416.2:c.6741T>C	XP_006715479.1:p.Phe2247=
XM_006715417.1:c.6741T>C	XP_006715480.1:p.Phe2247=
XM_006715417.2:c.6741T>C	XP_006715480.1:p.Phe2247=
XM_006715420.1:c.6741T>C	XP_006715483.1:p.Phe2247=
XM_006715420.2:c.6741T>C	XP_006715483.1:p.Phe2247=
XM_006715421.1:c.6741T>C	XP_006715484.1:p.Phe2247=
XM_006715421.2:c.6741T>C	XP_006715484.1:p.Phe2247=
XM_006715422.1:c.6582T>C	XP_006715485.1:p.Phe2194=
XM_006715423.1:c.6741T>C	XP_006715486.1:p.Phe2247=
XM_006715423.2:c.6741T>C	XP_006715486.1:p.Phe2247=
XM_006715424.1:c.6741T>C	XP_006715487.1:p.Phe2247=
XM_006715424.2:c.6741T>C	XP_006715487.1:p.Phe2247=
XM_006715425.1:c.6741T>C	XP_006715488.1:p.Phe2247=
XM_006715425.2:c.6741T>C	XP_006715488.1:p.Phe2247=
XM_011535641.1:c.6741T>C	XP_011533943.1:p.Phe2247=
XM_011535641.2:c.6741T>C	XP_011533943.1:p.Phe2247=
XM_011535642.1:c.6741T>C	XP_011533944.1:p.Phe2247=
XM_011535642.2:c.6741T>C	XP_011533944.1:p.Phe2247=
XM_011535643.1:c.6576T>C	XP_011533945.1:p.Phe2192=
XM_011535644.1:c.5016T>C	XP_011533946.1:p.Phe1672=
XM_011535645.1:c.4509T>C	XP_011533947.1:p.Phe1503=
XM_011535645.2:c.4509T>C	XP_011533947.1:p.Phe1503=
XM_011535646.1:c.6741T>C	XP_011533948.1:p.Phe2247=
XM_017010608.1:c.6741T>C	XP_016866097.1:p.Phe2247=
XM_017010609.1:c.6741T>C	XP_016866098.1:p.Phe2247=
XM_017010610.1:c.6720T>C	XP_016866099.1:p.Phe2240=
XM_017010611.2:c.6714T>C	XP_016866100.1:p.Phe2238=
XM_017010612.1:c.6663T>C	XP_016866101.1:p.Phe2221=
XM_017010613.1:c.6741T>C	XP_016866102.1:p.Phe2247=
XM_017010614.1:c.6741T>C	XP_016866103.1:p.Phe2247=
XM_017010615.1:c.6741T>C	XP_016866104.1:p.Phe2247=
XM_017010616.1:c.6741T>C	XP_016866105.1:p.Phe2247=
XM_017010617.1:c.6741T>C	XP_016866106.1:p.Phe2247=
XM_017010618.1:c.6741T>C	XP_016866107.1:p.Phe2247=
XM_017010619.1:c.5016T>C	XP_016866108.1:p.Phe1672=
XR_001743287.1:n.7224T>C