Canonical Allele Identifier: CA1673188727

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122453C= , CM000668.2:g.152122453C= GRCh38
NC_000006.11:g.152443588C= , CM000668.1:g.152443588C= GRCh37
NC_000006.10:g.152485281C= NCBI36
NG_012855.1:g.519947G=
NG_008493.2:g.470763C=
NG_012855.2:g.519947G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2911G= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly971=
ENST00000367255.10:c.26377G= (SYNE1) MANE Select ENSP00000356224.5:p.Gly8793=
ENST00000423061.6:c.26233G= (SYNE1) ENSP00000396024.1:p.Gly8745=
ENST00000672154.1:c.1720G= (SYNE1)
ENST00000672169.1:c.2095G= (SYNE1)
ENST00000673173.1:c.1962G= (SYNE1)
ENST00000673451.1:c.2227G= (SYNE1) ENSP00000500189.1:n.2227G=
ENST00000341594.9:c.25162G= (SYNE1) ENSP00000341887.6:p.Gly8388=
ENST00000347037.9:n.3125G= (SYNE1)
ENST00000354674.4:c.2911G= (SYNE1) ENSP00000346701.4:p.Gly971=
ENST00000367251.7:c.5153G= (SYNE1) ENSP00000356220.3:n.5153G=
ENST00000367255.9:c.26377G= (SYNE1) ENSP00000356224.5:p.Gly8793=
ENST00000367256.9:n.10069G= (SYNE1)
ENST00000367257.8:c.4256G= (SYNE1) ENSP00000356226.4:n.4256G=
ENST00000409694.6:n.9961G= (SYNE1)
ENST00000423061.5:c.26233G= (SYNE1) ENSP00000396024.1:p.Gly8745=
ENST00000427531.6:c.851-2813C= (ESR1) ENSP00000394721.2:n.851-2813C=
ENST00000460912.6:n.2991G= (SYNE1)
ENST00000478916.5:n.7014G= (SYNE1)
ENST00000539504.5:c.2842G= (SYNE1) ENSP00000441052.1:p.Gly948=
NM_033071.3:c.26233G= (SYNE1) NP_149062.1:p.Gly8745=
NM_182961.3:c.26377G= (SYNE1) NP_892006.3:p.Gly8793=
XM_006715407.1:c.26524G= (SYNE1) XP_006715470.1:p.Gly8842=
XM_006715408.1:c.26512G= (SYNE1) XP_006715471.1:p.Gly8838=
XM_006715409.1:c.26503G= (SYNE1) XP_006715472.1:p.Gly8835=
XM_006715410.1:c.26482G= (SYNE1) XP_006715473.1:p.Gly8828=
XM_006715411.1:c.26473G= (SYNE1) XP_006715474.1:p.Gly8825=
XM_006715412.1:c.26467G= (SYNE1) XP_006715475.1:p.Gly8823=
XM_006715413.1:c.26455G= (SYNE1) XP_006715476.1:p.Gly8819=
XM_006715414.1:c.26452G= (SYNE1) XP_006715477.1:p.Gly8818=
XM_006715415.1:c.26413G= (SYNE1) XP_006715478.1:p.Gly8805=
XM_006715416.1:c.26398G= (SYNE1) XP_006715479.1:p.Gly8800=
XM_006715417.1:c.26383G= (SYNE1) XP_006715480.1:p.Gly8795=
XM_006715420.1:c.26371G= (SYNE1) XP_006715483.1:p.Gly8791=
XM_006715421.1:c.26368G= (SYNE1) XP_006715484.1:p.Gly8790=
XM_006715422.1:c.26365G= (SYNE1) XP_006715485.1:p.Gly8789=
XM_006715423.1:c.*188G= (SYNE1) XP_006715486.1:n.*188G=
XM_006715424.1:c.*188G= (SYNE1) XP_006715487.1:n.*188G=
XM_006715425.1:c.*188G= (SYNE1) XP_006715488.1:n.*188G=
XM_011535641.1:c.26521G= (SYNE1) XP_011533943.1:p.Gly8841=
XM_011535642.1:c.26509G= (SYNE1) XP_011533944.1:p.Gly8837=
XM_011535643.1:c.26359G= (SYNE1) XP_011533945.1:p.Gly8787=
XM_011535644.1:c.24799G= (SYNE1) XP_011533946.1:p.Gly8267=
XM_011535645.1:c.24292G= (SYNE1) XP_011533947.1:p.Gly8098=
XM_011535647.1:c.19759G= (SYNE1) XP_011533949.1:p.Gly6587=
NM_001328100.1:c.851-2813C= (ESR1) NP_001315029.1:n.851-2813C=
NM_001347701.1:c.*188G= (SYNE1) NP_001334630.1:n.*188G=
NM_001347702.1:c.2911G= (SYNE1) NP_001334631.1:p.Gly971=
XM_006715408.2:c.26512G= (SYNE1) XP_006715471.1:p.Gly8838=
XM_006715410.2:c.26482G= (SYNE1) XP_006715473.1:p.Gly8828=
XM_006715412.2:c.26467G= (SYNE1) XP_006715475.1:p.Gly8823=
XM_006715413.2:c.26455G= (SYNE1) XP_006715476.1:p.Gly8819=
XM_006715415.2:c.26413G= (SYNE1) XP_006715478.1:p.Gly8805=
XM_006715416.2:c.26398G= (SYNE1) XP_006715479.1:p.Gly8800=
XM_006715417.2:c.26383G= (SYNE1) XP_006715480.1:p.Gly8795=
XM_006715420.2:c.26371G= (SYNE1) XP_006715483.1:p.Gly8791=
XM_006715421.2:c.26368G= (SYNE1) XP_006715484.1:p.Gly8790=
XM_006715423.2:c.*188G= (SYNE1) XP_006715486.1:n.*188G=
XM_006715424.2:c.*188G= (SYNE1) XP_006715487.1:n.*188G=
XM_006715425.2:c.*188G= (SYNE1) XP_006715488.1:n.*188G=
XM_011535641.2:c.26521G= (SYNE1) XP_011533943.1:p.Gly8841=
XM_011535642.2:c.26509G= (SYNE1) XP_011533944.1:p.Gly8837=
XM_011535645.2:c.24292G= (SYNE1) XP_011533947.1:p.Gly8098=
XM_017010608.1:c.26524G= (SYNE1) XP_016866097.1:p.Gly8842=
XM_017010609.1:c.26524G= (SYNE1) XP_016866098.1:p.Gly8842=
XM_017010610.1:c.26503G= (SYNE1) XP_016866099.1:p.Gly8835=
XM_017010611.2:c.26497G= (SYNE1) XP_016866100.1:p.Gly8833=
XM_017010612.1:c.26446G= (SYNE1) XP_016866101.1:p.Gly8816=
XM_017010613.1:c.26410G= (SYNE1) XP_016866102.1:p.Gly8804=
XM_017010614.1:c.26368G= (SYNE1) XP_016866103.1:p.Gly8790=
XM_017010615.1:c.26257G= (SYNE1) XP_016866104.1:p.Gly8753=
XM_017010616.1:c.*188G= (SYNE1) XP_016866105.1:n.*188G=
XM_017010617.1:c.*188G= (SYNE1) XP_016866106.1:n.*188G=
XM_017010618.1:c.*188G= (SYNE1) XP_016866107.1:n.*188G=
XM_017010619.1:c.24799G= (SYNE1) XP_016866108.1:p.Gly8267=
NM_182961.4:c.26377G= (SYNE1) MANE Select NP_892006.3:p.Gly8793=
NM_001328100.2:c.851-2813C= (ESR1) NP_001315029.1:n.851-2813C=
NM_001347701.2:c.*188G= (SYNE1) NP_001334630.1:n.*188G=
NM_001347702.2:c.2911G= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly971=
NM_033071.5:c.26233G= (SYNE1) NP_149062.2:p.Gly8745=