Canonical Allele Identifier: CA366080971

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461279C>G (hg19) ; chr6:g.152140144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140144C>G , CM000668.2:g.152140144C>G	GRCh38
NC_000006.11:g.152461279C>G , CM000668.1:g.152461279C>G	GRCh37
NC_000006.10:g.152502972C>G	NCBI36
NG_012855.1:g.502256G>C
NG_012855.2:g.502256G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1798G>C MANE Plus Clinical	ENSP00000346701.4:p.Glu600Gln
ENST00000367255.10:c.25264G>C MANE Select	ENSP00000356224.5:p.Glu8422Gln
ENST00000423061.6:c.25120G>C	ENSP00000396024.1:p.Glu8374Gln
ENST00000672154.1:c.666G>C
ENST00000672169.1:c.999G>C
ENST00000673173.1:c.908G>C
ENST00000673451.1:c.1036G>C	ENSP00000500189.1:p.Glu346Gln
ENST00000341594.9:c.24049G>C	ENSP00000341887.6:p.Glu8017Gln
ENST00000347037.9:n.2012G>C
ENST00000354674.4:c.1798G>C	ENSP00000346701.4:p.Glu600Gln
ENST00000367251.7:c.4099G>C	ENSP00000356220.3:p.Glu1367Gln
ENST00000367255.9:c.25264G>C	ENSP00000356224.5:p.Glu8422Gln
ENST00000367256.9:n.8956G>C
ENST00000367257.8:c.3202G>C	ENSP00000356226.4:p.Glu1068Gln
ENST00000409694.6:n.8848G>C
ENST00000423061.5:c.25120G>C	ENSP00000396024.1:p.Glu8374Gln
ENST00000460912.6:n.1878G>C
ENST00000478916.5:n.4286G>C
ENST00000536990.5:n.2101G>C
ENST00000539504.5:c.1729G>C	ENSP00000441052.1:p.Glu577Gln
NM_033071.3:c.25120G>C	NP_149062.1:p.Glu8374Gln
NM_182961.3:c.25264G>C	NP_892006.3:p.Glu8422Gln
XM_006715407.1:c.25369G>C	XP_006715470.1:p.Glu8457Gln
XM_006715408.1:c.25357G>C	XP_006715471.1:p.Glu8453Gln
XM_006715409.1:c.25348G>C	XP_006715472.1:p.Glu8450Gln
XM_006715410.1:c.25369G>C	XP_006715473.1:p.Glu8457Gln
XM_006715411.1:c.25318G>C	XP_006715474.1:p.Glu8440Gln
XM_006715412.1:c.25354G>C	XP_006715475.1:p.Glu8452Gln
XM_006715413.1:c.25300G>C	XP_006715476.1:p.Glu8434Gln
XM_006715414.1:c.25297G>C	XP_006715477.1:p.Glu8433Gln
XM_006715415.1:c.25300G>C	XP_006715478.1:p.Glu8434Gln
XM_006715416.1:c.25285G>C	XP_006715479.1:p.Glu8429Gln
XM_006715417.1:c.25228G>C	XP_006715480.1:p.Glu8410Gln
XM_006715420.1:c.25216G>C	XP_006715483.1:p.Glu8406Gln
XM_006715421.1:c.25213G>C	XP_006715484.1:p.Glu8405Gln
XM_006715422.1:c.25210G>C	XP_006715485.1:p.Glu8404Gln
XM_006715423.1:c.25369G>C	XP_006715486.1:p.Glu8457Gln
XM_006715424.1:c.25369G>C	XP_006715487.1:p.Glu8457Gln
XM_006715425.1:c.25300G>C	XP_006715488.1:p.Glu8434Gln
XM_011535641.1:c.25366G>C	XP_011533943.1:p.Glu8456Gln
XM_011535642.1:c.25354G>C	XP_011533944.1:p.Glu8452Gln
XM_011535643.1:c.25204G>C	XP_011533945.1:p.Glu8402Gln
XM_011535644.1:c.23644G>C	XP_011533946.1:p.Glu7882Gln
XM_011535645.1:c.23137G>C	XP_011533947.1:p.Glu7713Gln
XM_011535647.1:c.18604G>C	XP_011533949.1:p.Glu6202Gln
NM_001347701.1:c.1870G>C	NP_001334630.1:p.Glu624Gln
NM_001347702.1:c.1798G>C	NP_001334631.1:p.Glu600Gln
XM_006715408.2:c.25357G>C	XP_006715471.1:p.Glu8453Gln
XM_006715410.2:c.25369G>C	XP_006715473.1:p.Glu8457Gln
XM_006715412.2:c.25354G>C	XP_006715475.1:p.Glu8452Gln
XM_006715413.2:c.25300G>C	XP_006715476.1:p.Glu8434Gln
XM_006715415.2:c.25300G>C	XP_006715478.1:p.Glu8434Gln
XM_006715416.2:c.25285G>C	XP_006715479.1:p.Glu8429Gln
XM_006715417.2:c.25228G>C	XP_006715480.1:p.Glu8410Gln
XM_006715420.2:c.25216G>C	XP_006715483.1:p.Glu8406Gln
XM_006715421.2:c.25213G>C	XP_006715484.1:p.Glu8405Gln
XM_006715423.2:c.25369G>C	XP_006715486.1:p.Glu8457Gln
XM_006715424.2:c.25369G>C	XP_006715487.1:p.Glu8457Gln
XM_006715425.2:c.25300G>C	XP_006715488.1:p.Glu8434Gln
XM_011535641.2:c.25366G>C	XP_011533943.1:p.Glu8456Gln
XM_011535642.2:c.25354G>C	XP_011533944.1:p.Glu8452Gln
XM_011535645.2:c.23137G>C	XP_011533947.1:p.Glu7713Gln
XM_017010608.1:c.25369G>C	XP_016866097.1:p.Glu8457Gln
XM_017010609.1:c.25369G>C	XP_016866098.1:p.Glu8457Gln
XM_017010610.1:c.25348G>C	XP_016866099.1:p.Glu8450Gln
XM_017010611.2:c.25342G>C	XP_016866100.1:p.Glu8448Gln
XM_017010612.1:c.25291G>C	XP_016866101.1:p.Glu8431Gln
XM_017010613.1:c.25297G>C	XP_016866102.1:p.Glu8433Gln
XM_017010614.1:c.25213G>C	XP_016866103.1:p.Glu8405Gln
XM_017010615.1:c.25144G>C	XP_016866104.1:p.Glu8382Gln
XM_017010616.1:c.25300G>C	XP_016866105.1:p.Glu8434Gln
XM_017010617.1:c.25297G>C	XP_016866106.1:p.Glu8433Gln
XM_017010618.1:c.25285G>C	XP_016866107.1:p.Glu8429Gln
XM_017010619.1:c.23644G>C	XP_016866108.1:p.Glu7882Gln
NM_182961.4:c.25264G>C MANE Select	NP_892006.3:p.Glu8422Gln
NM_001347701.2:c.1870G>C	NP_001334630.1:p.Glu624Gln
NM_001347702.2:c.1798G>C MANE Plus Clinical	NP_001334631.1:p.Glu600Gln
NM_033071.5:c.25120G>C	NP_149062.2:p.Glu8374Gln