Canonical Allele Identifier: CA4055234

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152302021A>G , CM000668.2:g.152302021A>G	GRCh38
NC_000006.11:g.152623156A>G , CM000668.1:g.152623156A>G	GRCh37
NC_000006.10:g.152664849A>G	NCBI36
NG_012855.1:g.340379T>C
NG_012855.2:g.340379T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.17389T>C MANE Select	NP_892006.3:p.Ser5797Pro
ENST00000367255.10:c.17389T>C MANE Select	ENSP00000356224.5:p.Ser5797Pro
NM_033071.3:c.17176T>C	NP_149062.1:p.Ser5726Pro
NM_033071.5:c.17176T>C	NP_149062.2:p.Ser5726Pro
NM_182961.3:c.17389T>C	NP_892006.3:p.Ser5797Pro
ENST00000341594.9:c.16174T>C	ENSP00000341887.6:p.Ser5392Pro
ENST00000367255.9:c.17389T>C	ENSP00000356224.5:p.Ser5797Pro
ENST00000367256.9:n.1081T>C
ENST00000409694.6:n.973T>C
ENST00000423061.5:c.17176T>C	ENSP00000396024.1:p.Ser5726Pro
ENST00000423061.6:c.17176T>C	ENSP00000396024.1:p.Ser5726Pro
ENST00000489156.1:n.249T>C
ENST00000537033.1:c.55T>C	ENSP00000443879.1:p.Ser19Pro
ENST00000540663.5:c.55T>C	ENSP00000437411.1:p.Ser19Pro
XM_006715407.1:c.17410T>C	XP_006715470.1:p.Ser5804Pro
XM_006715408.1:c.17410T>C	XP_006715471.1:p.Ser5804Pro
XM_006715408.2:c.17410T>C	XP_006715471.1:p.Ser5804Pro
XM_006715409.1:c.17389T>C	XP_006715472.1:p.Ser5797Pro
XM_006715410.1:c.17410T>C	XP_006715473.1:p.Ser5804Pro
XM_006715410.2:c.17410T>C	XP_006715473.1:p.Ser5804Pro
XM_006715411.1:c.17359T>C	XP_006715474.1:p.Ser5787Pro
XM_006715412.1:c.17410T>C	XP_006715475.1:p.Ser5804Pro
XM_006715412.2:c.17410T>C	XP_006715475.1:p.Ser5804Pro
XM_006715413.1:c.17410T>C	XP_006715476.1:p.Ser5804Pro
XM_006715413.2:c.17410T>C	XP_006715476.1:p.Ser5804Pro
XM_006715414.1:c.17338T>C	XP_006715477.1:p.Ser5780Pro
XM_006715415.1:c.17410T>C	XP_006715478.1:p.Ser5804Pro
XM_006715415.2:c.17410T>C	XP_006715478.1:p.Ser5804Pro
XM_006715416.1:c.17410T>C	XP_006715479.1:p.Ser5804Pro
XM_006715416.2:c.17410T>C	XP_006715479.1:p.Ser5804Pro
XM_006715417.1:c.17410T>C	XP_006715480.1:p.Ser5804Pro
XM_006715417.2:c.17410T>C	XP_006715480.1:p.Ser5804Pro
XM_006715420.1:c.17410T>C	XP_006715483.1:p.Ser5804Pro
XM_006715420.2:c.17410T>C	XP_006715483.1:p.Ser5804Pro
XM_006715421.1:c.17254T>C	XP_006715484.1:p.Ser5752Pro
XM_006715421.2:c.17254T>C	XP_006715484.1:p.Ser5752Pro
XM_006715422.1:c.17251T>C	XP_006715485.1:p.Ser5751Pro
XM_006715423.1:c.17410T>C	XP_006715486.1:p.Ser5804Pro
XM_006715423.2:c.17410T>C	XP_006715486.1:p.Ser5804Pro
XM_006715424.1:c.17410T>C	XP_006715487.1:p.Ser5804Pro
XM_006715424.2:c.17410T>C	XP_006715487.1:p.Ser5804Pro
XM_006715425.1:c.17410T>C	XP_006715488.1:p.Ser5804Pro
XM_006715425.2:c.17410T>C	XP_006715488.1:p.Ser5804Pro
XM_011535641.1:c.17410T>C	XP_011533943.1:p.Ser5804Pro
XM_011535641.2:c.17410T>C	XP_011533943.1:p.Ser5804Pro
XM_011535642.1:c.17410T>C	XP_011533944.1:p.Ser5804Pro
XM_011535642.2:c.17410T>C	XP_011533944.1:p.Ser5804Pro
XM_011535643.1:c.17245T>C	XP_011533945.1:p.Ser5749Pro
XM_011535644.1:c.15685T>C	XP_011533946.1:p.Ser5229Pro
XM_011535645.1:c.15178T>C	XP_011533947.1:p.Ser5060Pro
XM_011535645.2:c.15178T>C	XP_011533947.1:p.Ser5060Pro
XM_011535646.1:c.17410T>C	XP_011533948.1:p.Ser5804Pro
XM_011535647.1:c.10645T>C	XP_011533949.1:p.Ser3549Pro
XM_017010608.1:c.17410T>C	XP_016866097.1:p.Ser5804Pro
XM_017010609.1:c.17410T>C	XP_016866098.1:p.Ser5804Pro
XM_017010610.1:c.17389T>C	XP_016866099.1:p.Ser5797Pro
XM_017010611.2:c.17383T>C	XP_016866100.1:p.Ser5795Pro
XM_017010612.1:c.17332T>C	XP_016866101.1:p.Ser5778Pro
XM_017010613.1:c.17410T>C	XP_016866102.1:p.Ser5804Pro
XM_017010614.1:c.17410T>C	XP_016866103.1:p.Ser5804Pro
XM_017010615.1:c.17410T>C	XP_016866104.1:p.Ser5804Pro
XM_017010616.1:c.17410T>C	XP_016866105.1:p.Ser5804Pro
XM_017010617.1:c.17410T>C	XP_016866106.1:p.Ser5804Pro
XM_017010618.1:c.17410T>C	XP_016866107.1:p.Ser5804Pro
XM_017010619.1:c.15685T>C	XP_016866108.1:p.Ser5229Pro
XR_001743287.1:n.17893T>C