Canonical Allele Identifier: CA452745988

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 497364
• ClinVar RCV Id: RCV000596793 ; RCV001473296
• dbSNP Id: rs1554372048
• MyVariant Identifiers: chr6:g.152451908T>C (hg19) ; chr6:g.152130773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152130773T>C , CM000668.2:g.152130773T>C	GRCh38
NC_000006.11:g.152451908T>C , CM000668.1:g.152451908T>C	GRCh37
NC_000006.10:g.152493601T>C	NCBI36
NG_012855.1:g.511627A>G
NG_008493.2:g.479083T>C
NG_012855.2:g.511627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2634A>G MANE Plus Clinical	ENSP00000346701.4:p.Arg878=
ENST00000367255.10:c.26100A>G MANE Select	ENSP00000356224.5:p.Arg8700=
ENST00000423061.6:c.25956A>G	ENSP00000396024.1:p.Arg8652=
ENST00000672154.1:c.1496+1349A>G
ENST00000672169.1:c.1871+1349A>G
ENST00000673173.1:c.1738+1349A>G
ENST00000673451.1:c.1950A>G	ENSP00000500189.1:n.1950A>G
ENST00000341594.9:c.24885A>G	ENSP00000341887.6:p.Arg8295=
ENST00000347037.9:n.2848A>G
ENST00000354674.4:c.2634A>G	ENSP00000346701.4:p.Arg878=
ENST00000367251.7:c.4929+1349A>G	ENSP00000356220.3:n.4929+1349A>G
ENST00000367255.9:c.26100A>G	ENSP00000356224.5:p.Arg8700=
ENST00000367256.9:n.9792A>G
ENST00000367257.8:c.4032+1349A>G	ENSP00000356226.4:n.4032+1349A>G
ENST00000409694.6:n.9684A>G
ENST00000423061.5:c.25956A>G	ENSP00000396024.1:p.Arg8652=
ENST00000460912.6:n.2714A>G
ENST00000478916.5:n.6737A>G
ENST00000536990.5:n.2931+1349A>G
ENST00000539504.5:c.2565A>G	ENSP00000441052.1:p.Arg855=
NM_033071.3:c.25956A>G	NP_149062.1:p.Arg8652=
NM_182961.3:c.26100A>G	NP_892006.3:p.Arg8700=
XM_006715407.1:c.26247A>G	XP_006715470.1:p.Arg8749=
XM_006715408.1:c.26235A>G	XP_006715471.1:p.Arg8745=
XM_006715409.1:c.26226A>G	XP_006715472.1:p.Arg8742=
XM_006715410.1:c.26205A>G	XP_006715473.1:p.Arg8735=
XM_006715411.1:c.26196A>G	XP_006715474.1:p.Arg8732=
XM_006715412.1:c.26190A>G	XP_006715475.1:p.Arg8730=
XM_006715413.1:c.26178A>G	XP_006715476.1:p.Arg8726=
XM_006715414.1:c.26175A>G	XP_006715477.1:p.Arg8725=
XM_006715415.1:c.26136A>G	XP_006715478.1:p.Arg8712=
XM_006715416.1:c.26121A>G	XP_006715479.1:p.Arg8707=
XM_006715417.1:c.26106A>G	XP_006715480.1:p.Arg8702=
XM_006715420.1:c.26094A>G	XP_006715483.1:p.Arg8698=
XM_006715421.1:c.26091A>G	XP_006715484.1:p.Arg8697=
XM_006715422.1:c.26088A>G	XP_006715485.1:p.Arg8696=
XM_006715423.1:c.26241+1349A>G	XP_006715486.1:n.26241+1349A>G
XM_006715424.1:c.26199+1349A>G	XP_006715487.1:n.26199+1349A>G
XM_006715425.1:c.26130+1349A>G	XP_006715488.1:n.26130+1349A>G
XM_011535641.1:c.26244A>G	XP_011533943.1:p.Arg8748=
XM_011535642.1:c.26232A>G	XP_011533944.1:p.Arg8744=
XM_011535643.1:c.26082A>G	XP_011533945.1:p.Arg8694=
XM_011535644.1:c.24522A>G	XP_011533946.1:p.Arg8174=
XM_011535645.1:c.24015A>G	XP_011533947.1:p.Arg8005=
XM_011535647.1:c.19482A>G	XP_011533949.1:p.Arg6494=
NM_001347701.1:c.2700+1349A>G	NP_001334630.1:n.2700+1349A>G
NM_001347702.1:c.2634A>G	NP_001334631.1:p.Arg878=
XM_006715408.2:c.26235A>G	XP_006715471.1:p.Arg8745=
XM_006715410.2:c.26205A>G	XP_006715473.1:p.Arg8735=
XM_006715412.2:c.26190A>G	XP_006715475.1:p.Arg8730=
XM_006715413.2:c.26178A>G	XP_006715476.1:p.Arg8726=
XM_006715415.2:c.26136A>G	XP_006715478.1:p.Arg8712=
XM_006715416.2:c.26121A>G	XP_006715479.1:p.Arg8707=
XM_006715417.2:c.26106A>G	XP_006715480.1:p.Arg8702=
XM_006715420.2:c.26094A>G	XP_006715483.1:p.Arg8698=
XM_006715421.2:c.26091A>G	XP_006715484.1:p.Arg8697=
XM_006715423.2:c.26241+1349A>G	XP_006715486.1:n.26241+1349A>G
XM_006715424.2:c.26199+1349A>G	XP_006715487.1:n.26199+1349A>G
XM_006715425.2:c.26130+1349A>G	XP_006715488.1:n.26130+1349A>G
XM_011535641.2:c.26244A>G	XP_011533943.1:p.Arg8748=
XM_011535642.2:c.26232A>G	XP_011533944.1:p.Arg8744=
XM_011535645.2:c.24015A>G	XP_011533947.1:p.Arg8005=
XM_017010608.1:c.26247A>G	XP_016866097.1:p.Arg8749=
XM_017010609.1:c.26247A>G	XP_016866098.1:p.Arg8749=
XM_017010610.1:c.26226A>G	XP_016866099.1:p.Arg8742=
XM_017010611.2:c.26220A>G	XP_016866100.1:p.Arg8740=
XM_017010612.1:c.26169A>G	XP_016866101.1:p.Arg8723=
XM_017010613.1:c.26133A>G	XP_016866102.1:p.Arg8711=
XM_017010614.1:c.26091A>G	XP_016866103.1:p.Arg8697=
XM_017010615.1:c.25980A>G	XP_016866104.1:p.Arg8660=
XM_017010616.1:c.26172+1349A>G	XP_016866105.1:n.26172+1349A>G
XM_017010617.1:c.26127+1349A>G	XP_016866106.1:n.26127+1349A>G
XM_017010618.1:c.26115+1349A>G	XP_016866107.1:n.26115+1349A>G
XM_017010619.1:c.24522A>G	XP_016866108.1:p.Arg8174=
NM_182961.4:c.26100A>G MANE Select	NP_892006.3:p.Arg8700=
NM_001347701.2:c.2700+1349A>G	NP_001334630.1:n.2700+1349A>G
NM_001347702.2:c.2634A>G MANE Plus Clinical	NP_001334631.1:p.Arg878=
NM_033071.5:c.25956A>G	NP_149062.2:p.Arg8652=