Canonical Allele Identifier: CA1673188847

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122489C= , CM000668.2:g.152122489C= GRCh38
NC_000006.11:g.152443624C= , CM000668.1:g.152443624C= GRCh37
NC_000006.10:g.152485317C= NCBI36
NG_012855.1:g.519911G=
NG_008493.2:g.470799C=
NG_012855.2:g.519911G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2875G= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ala959=
ENST00000367255.10:c.26341G= (SYNE1) MANE Select ENSP00000356224.5:p.Ala8781=
ENST00000423061.6:c.26197G= (SYNE1) ENSP00000396024.1:p.Ala8733=
ENST00000672154.1:c.1684G= (SYNE1)
ENST00000672169.1:c.2059G= (SYNE1)
ENST00000673173.1:c.1926G= (SYNE1)
ENST00000673451.1:c.2191G= (SYNE1) ENSP00000500189.1:n.2191G=
ENST00000341594.9:c.25126G= (SYNE1) ENSP00000341887.6:p.Ala8376=
ENST00000347037.9:n.3089G= (SYNE1)
ENST00000354674.4:c.2875G= (SYNE1) ENSP00000346701.4:p.Ala959=
ENST00000367251.7:c.5117G= (SYNE1) ENSP00000356220.3:n.5117G=
ENST00000367255.9:c.26341G= (SYNE1) ENSP00000356224.5:p.Ala8781=
ENST00000367256.9:n.10033G= (SYNE1)
ENST00000367257.8:c.4220G= (SYNE1) ENSP00000356226.4:n.4220G=
ENST00000409694.6:n.9925G= (SYNE1)
ENST00000423061.5:c.26197G= (SYNE1) ENSP00000396024.1:p.Ala8733=
ENST00000427531.6:c.851-2777C= (ESR1) ENSP00000394721.2:n.851-2777C=
ENST00000460912.6:n.2955G= (SYNE1)
ENST00000478916.5:n.6978G= (SYNE1)
ENST00000539504.5:c.2806G= (SYNE1) ENSP00000441052.1:p.Ala936=
NM_033071.3:c.26197G= (SYNE1) NP_149062.1:p.Ala8733=
NM_182961.3:c.26341G= (SYNE1) NP_892006.3:p.Ala8781=
XM_006715407.1:c.26488G= (SYNE1) XP_006715470.1:p.Ala8830=
XM_006715408.1:c.26476G= (SYNE1) XP_006715471.1:p.Ala8826=
XM_006715409.1:c.26467G= (SYNE1) XP_006715472.1:p.Ala8823=
XM_006715410.1:c.26446G= (SYNE1) XP_006715473.1:p.Ala8816=
XM_006715411.1:c.26437G= (SYNE1) XP_006715474.1:p.Ala8813=
XM_006715412.1:c.26431G= (SYNE1) XP_006715475.1:p.Ala8811=
XM_006715413.1:c.26419G= (SYNE1) XP_006715476.1:p.Ala8807=
XM_006715414.1:c.26416G= (SYNE1) XP_006715477.1:p.Ala8806=
XM_006715415.1:c.26377G= (SYNE1) XP_006715478.1:p.Ala8793=
XM_006715416.1:c.26362G= (SYNE1) XP_006715479.1:p.Ala8788=
XM_006715417.1:c.26347G= (SYNE1) XP_006715480.1:p.Ala8783=
XM_006715420.1:c.26335G= (SYNE1) XP_006715483.1:p.Ala8779=
XM_006715421.1:c.26332G= (SYNE1) XP_006715484.1:p.Ala8778=
XM_006715422.1:c.26329G= (SYNE1) XP_006715485.1:p.Ala8777=
XM_006715423.1:c.*152G= (SYNE1) XP_006715486.1:n.*152G=
XM_006715424.1:c.*152G= (SYNE1) XP_006715487.1:n.*152G=
XM_006715425.1:c.*152G= (SYNE1) XP_006715488.1:n.*152G=
XM_011535641.1:c.26485G= (SYNE1) XP_011533943.1:p.Ala8829=
XM_011535642.1:c.26473G= (SYNE1) XP_011533944.1:p.Ala8825=
XM_011535643.1:c.26323G= (SYNE1) XP_011533945.1:p.Ala8775=
XM_011535644.1:c.24763G= (SYNE1) XP_011533946.1:p.Ala8255=
XM_011535645.1:c.24256G= (SYNE1) XP_011533947.1:p.Ala8086=
XM_011535647.1:c.19723G= (SYNE1) XP_011533949.1:p.Ala6575=
NM_001328100.1:c.851-2777C= (ESR1) NP_001315029.1:n.851-2777C=
NM_001347701.1:c.*152G= (SYNE1) NP_001334630.1:n.*152G=
NM_001347702.1:c.2875G= (SYNE1) NP_001334631.1:p.Ala959=
XM_006715408.2:c.26476G= (SYNE1) XP_006715471.1:p.Ala8826=
XM_006715410.2:c.26446G= (SYNE1) XP_006715473.1:p.Ala8816=
XM_006715412.2:c.26431G= (SYNE1) XP_006715475.1:p.Ala8811=
XM_006715413.2:c.26419G= (SYNE1) XP_006715476.1:p.Ala8807=
XM_006715415.2:c.26377G= (SYNE1) XP_006715478.1:p.Ala8793=
XM_006715416.2:c.26362G= (SYNE1) XP_006715479.1:p.Ala8788=
XM_006715417.2:c.26347G= (SYNE1) XP_006715480.1:p.Ala8783=
XM_006715420.2:c.26335G= (SYNE1) XP_006715483.1:p.Ala8779=
XM_006715421.2:c.26332G= (SYNE1) XP_006715484.1:p.Ala8778=
XM_006715423.2:c.*152G= (SYNE1) XP_006715486.1:n.*152G=
XM_006715424.2:c.*152G= (SYNE1) XP_006715487.1:n.*152G=
XM_006715425.2:c.*152G= (SYNE1) XP_006715488.1:n.*152G=
XM_011535641.2:c.26485G= (SYNE1) XP_011533943.1:p.Ala8829=
XM_011535642.2:c.26473G= (SYNE1) XP_011533944.1:p.Ala8825=
XM_011535645.2:c.24256G= (SYNE1) XP_011533947.1:p.Ala8086=
XM_017010608.1:c.26488G= (SYNE1) XP_016866097.1:p.Ala8830=
XM_017010609.1:c.26488G= (SYNE1) XP_016866098.1:p.Ala8830=
XM_017010610.1:c.26467G= (SYNE1) XP_016866099.1:p.Ala8823=
XM_017010611.2:c.26461G= (SYNE1) XP_016866100.1:p.Ala8821=
XM_017010612.1:c.26410G= (SYNE1) XP_016866101.1:p.Ala8804=
XM_017010613.1:c.26374G= (SYNE1) XP_016866102.1:p.Ala8792=
XM_017010614.1:c.26332G= (SYNE1) XP_016866103.1:p.Ala8778=
XM_017010615.1:c.26221G= (SYNE1) XP_016866104.1:p.Ala8741=
XM_017010616.1:c.*152G= (SYNE1) XP_016866105.1:n.*152G=
XM_017010617.1:c.*152G= (SYNE1) XP_016866106.1:n.*152G=
XM_017010618.1:c.*152G= (SYNE1) XP_016866107.1:n.*152G=
XM_017010619.1:c.24763G= (SYNE1) XP_016866108.1:p.Ala8255=
NM_182961.4:c.26341G= (SYNE1) MANE Select NP_892006.3:p.Ala8781=
NM_001328100.2:c.851-2777C= (ESR1) NP_001315029.1:n.851-2777C=
NM_001347701.2:c.*152G= (SYNE1) NP_001334630.1:n.*152G=
NM_001347702.2:c.2875G= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ala959=
NM_033071.5:c.26197G= (SYNE1) NP_149062.2:p.Ala8733=