Canonical Allele Identifier: CA16043412

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152239642C>G , CM000668.2:g.152239642C>G	GRCh38
NC_000006.11:g.152560777C>G , CM000668.1:g.152560777C>G	GRCh37
NC_000006.10:g.152602470C>G	NCBI36
NG_012855.1:g.402758G>C
NG_012855.2:g.402758G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.19958G>C MANE Select	NP_892006.3:p.Ser6653Thr
ENST00000367255.10:c.19958G>C MANE Select	ENSP00000356224.5:p.Ser6653Thr
NM_033071.3:c.19745G>C	NP_149062.1:p.Ser6582Thr
NM_033071.5:c.19745G>C	NP_149062.2:p.Ser6582Thr
NM_182961.3:c.19958G>C	NP_892006.3:p.Ser6653Thr
ENST00000341594.9:c.18743G>C	ENSP00000341887.6:p.Ser6248Thr
ENST00000367255.9:c.19958G>C	ENSP00000356224.5:p.Ser6653Thr
ENST00000367256.9:n.3650G>C
ENST00000409694.6:n.3542G>C
ENST00000423061.5:c.19745G>C	ENSP00000396024.1:p.Ser6582Thr
ENST00000423061.6:c.19745G>C	ENSP00000396024.1:p.Ser6582Thr
XM_006715407.1:c.19994G>C	XP_006715470.1:p.Ser6665Thr
XM_006715408.1:c.19982G>C	XP_006715471.1:p.Ser6661Thr
XM_006715408.2:c.19982G>C	XP_006715471.1:p.Ser6661Thr
XM_006715409.1:c.19973G>C	XP_006715472.1:p.Ser6658Thr
XM_006715410.1:c.19994G>C	XP_006715473.1:p.Ser6665Thr
XM_006715410.2:c.19994G>C	XP_006715473.1:p.Ser6665Thr
XM_006715411.1:c.19943G>C	XP_006715474.1:p.Ser6648Thr
XM_006715412.1:c.19979G>C	XP_006715475.1:p.Ser6660Thr
XM_006715412.2:c.19979G>C	XP_006715475.1:p.Ser6660Thr
XM_006715413.1:c.19994G>C	XP_006715476.1:p.Ser6665Thr
XM_006715413.2:c.19994G>C	XP_006715476.1:p.Ser6665Thr
XM_006715414.1:c.19922G>C	XP_006715477.1:p.Ser6641Thr
XM_006715415.1:c.19994G>C	XP_006715478.1:p.Ser6665Thr
XM_006715415.2:c.19994G>C	XP_006715478.1:p.Ser6665Thr
XM_006715416.1:c.19979G>C	XP_006715479.1:p.Ser6660Thr
XM_006715416.2:c.19979G>C	XP_006715479.1:p.Ser6660Thr
XM_006715417.1:c.19853G>C	XP_006715480.1:p.Ser6618Thr
XM_006715417.2:c.19853G>C	XP_006715480.1:p.Ser6618Thr
XM_006715420.1:c.19841G>C	XP_006715483.1:p.Ser6614Thr
XM_006715420.2:c.19841G>C	XP_006715483.1:p.Ser6614Thr
XM_006715421.1:c.19838G>C	XP_006715484.1:p.Ser6613Thr
XM_006715421.2:c.19838G>C	XP_006715484.1:p.Ser6613Thr
XM_006715422.1:c.19835G>C	XP_006715485.1:p.Ser6612Thr
XM_006715423.1:c.19994G>C	XP_006715486.1:p.Ser6665Thr
XM_006715423.2:c.19994G>C	XP_006715486.1:p.Ser6665Thr
XM_006715424.1:c.19994G>C	XP_006715487.1:p.Ser6665Thr
XM_006715424.2:c.19994G>C	XP_006715487.1:p.Ser6665Thr
XM_006715425.1:c.19994G>C	XP_006715488.1:p.Ser6665Thr
XM_006715425.2:c.19994G>C	XP_006715488.1:p.Ser6665Thr
XM_011535641.1:c.19991G>C	XP_011533943.1:p.Ser6664Thr
XM_011535641.2:c.19991G>C	XP_011533943.1:p.Ser6664Thr
XM_011535642.1:c.19979G>C	XP_011533944.1:p.Ser6660Thr
XM_011535642.2:c.19979G>C	XP_011533944.1:p.Ser6660Thr
XM_011535643.1:c.19829G>C	XP_011533945.1:p.Ser6610Thr
XM_011535644.1:c.18269G>C	XP_011533946.1:p.Ser6090Thr
XM_011535645.1:c.17762G>C	XP_011533947.1:p.Ser5921Thr
XM_011535645.2:c.17762G>C	XP_011533947.1:p.Ser5921Thr
XM_011535647.1:c.13229G>C	XP_011533949.1:p.Ser4410Thr
XM_017010608.1:c.19994G>C	XP_016866097.1:p.Ser6665Thr
XM_017010609.1:c.19994G>C	XP_016866098.1:p.Ser6665Thr
XM_017010610.1:c.19973G>C	XP_016866099.1:p.Ser6658Thr
XM_017010611.2:c.19967G>C	XP_016866100.1:p.Ser6656Thr
XM_017010612.1:c.19916G>C	XP_016866101.1:p.Ser6639Thr
XM_017010613.1:c.19991G>C	XP_016866102.1:p.Ser6664Thr
XM_017010614.1:c.19838G>C	XP_016866103.1:p.Ser6613Thr
XM_017010615.1:c.19838G>C	XP_016866104.1:p.Ser6613Thr
XM_017010616.1:c.19994G>C	XP_016866105.1:p.Ser6665Thr
XM_017010617.1:c.19991G>C	XP_016866106.1:p.Ser6664Thr
XM_017010618.1:c.19979G>C	XP_016866107.1:p.Ser6660Thr
XM_017010619.1:c.18269G>C	XP_016866108.1:p.Ser6090Thr
XR_001743287.1:n.20512G>C