Canonical Allele Identifier: CA1673188719

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122451G= , CM000668.2:g.152122451G= GRCh38
NC_000006.11:g.152443586G= , CM000668.1:g.152443586G= GRCh37
NC_000006.10:g.152485279G= NCBI36
NG_012855.1:g.519949C=
NG_008493.2:g.470761G=
NG_012855.2:g.519949C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2913C= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly971=
ENST00000367255.10:c.26379C= (SYNE1) MANE Select ENSP00000356224.5:p.Gly8793=
ENST00000423061.6:c.26235C= (SYNE1) ENSP00000396024.1:p.Gly8745=
ENST00000672154.1:c.1722C= (SYNE1)
ENST00000672169.1:c.2097C= (SYNE1)
ENST00000673173.1:c.1964C= (SYNE1)
ENST00000673451.1:c.2229C= (SYNE1) ENSP00000500189.1:n.2229C=
ENST00000341594.9:c.25164C= (SYNE1) ENSP00000341887.6:p.Gly8388=
ENST00000347037.9:n.3127C= (SYNE1)
ENST00000354674.4:c.2913C= (SYNE1) ENSP00000346701.4:p.Gly971=
ENST00000367251.7:c.5155C= (SYNE1) ENSP00000356220.3:n.5155C=
ENST00000367255.9:c.26379C= (SYNE1) ENSP00000356224.5:p.Gly8793=
ENST00000367256.9:n.10071C= (SYNE1)
ENST00000367257.8:c.4258C= (SYNE1) ENSP00000356226.4:n.4258C=
ENST00000409694.6:n.9963C= (SYNE1)
ENST00000423061.5:c.26235C= (SYNE1) ENSP00000396024.1:p.Gly8745=
ENST00000427531.6:c.851-2815G= (ESR1) ENSP00000394721.2:n.851-2815G=
ENST00000460912.6:n.2993C= (SYNE1)
ENST00000478916.5:n.7016C= (SYNE1)
ENST00000539504.5:c.2844C= (SYNE1) ENSP00000441052.1:p.Gly948=
NM_033071.3:c.26235C= (SYNE1) NP_149062.1:p.Gly8745=
NM_182961.3:c.26379C= (SYNE1) NP_892006.3:p.Gly8793=
XM_006715407.1:c.26526C= (SYNE1) XP_006715470.1:p.Gly8842=
XM_006715408.1:c.26514C= (SYNE1) XP_006715471.1:p.Gly8838=
XM_006715409.1:c.26505C= (SYNE1) XP_006715472.1:p.Gly8835=
XM_006715410.1:c.26484C= (SYNE1) XP_006715473.1:p.Gly8828=
XM_006715411.1:c.26475C= (SYNE1) XP_006715474.1:p.Gly8825=
XM_006715412.1:c.26469C= (SYNE1) XP_006715475.1:p.Gly8823=
XM_006715413.1:c.26457C= (SYNE1) XP_006715476.1:p.Gly8819=
XM_006715414.1:c.26454C= (SYNE1) XP_006715477.1:p.Gly8818=
XM_006715415.1:c.26415C= (SYNE1) XP_006715478.1:p.Gly8805=
XM_006715416.1:c.26400C= (SYNE1) XP_006715479.1:p.Gly8800=
XM_006715417.1:c.26385C= (SYNE1) XP_006715480.1:p.Gly8795=
XM_006715420.1:c.26373C= (SYNE1) XP_006715483.1:p.Gly8791=
XM_006715421.1:c.26370C= (SYNE1) XP_006715484.1:p.Gly8790=
XM_006715422.1:c.26367C= (SYNE1) XP_006715485.1:p.Gly8789=
XM_006715423.1:c.*190C= (SYNE1) XP_006715486.1:n.*190C=
XM_006715424.1:c.*190C= (SYNE1) XP_006715487.1:n.*190C=
XM_006715425.1:c.*190C= (SYNE1) XP_006715488.1:n.*190C=
XM_011535641.1:c.26523C= (SYNE1) XP_011533943.1:p.Gly8841=
XM_011535642.1:c.26511C= (SYNE1) XP_011533944.1:p.Gly8837=
XM_011535643.1:c.26361C= (SYNE1) XP_011533945.1:p.Gly8787=
XM_011535644.1:c.24801C= (SYNE1) XP_011533946.1:p.Gly8267=
XM_011535645.1:c.24294C= (SYNE1) XP_011533947.1:p.Gly8098=
XM_011535647.1:c.19761C= (SYNE1) XP_011533949.1:p.Gly6587=
NM_001328100.1:c.851-2815G= (ESR1) NP_001315029.1:n.851-2815G=
NM_001347701.1:c.*190C= (SYNE1) NP_001334630.1:n.*190C=
NM_001347702.1:c.2913C= (SYNE1) NP_001334631.1:p.Gly971=
XM_006715408.2:c.26514C= (SYNE1) XP_006715471.1:p.Gly8838=
XM_006715410.2:c.26484C= (SYNE1) XP_006715473.1:p.Gly8828=
XM_006715412.2:c.26469C= (SYNE1) XP_006715475.1:p.Gly8823=
XM_006715413.2:c.26457C= (SYNE1) XP_006715476.1:p.Gly8819=
XM_006715415.2:c.26415C= (SYNE1) XP_006715478.1:p.Gly8805=
XM_006715416.2:c.26400C= (SYNE1) XP_006715479.1:p.Gly8800=
XM_006715417.2:c.26385C= (SYNE1) XP_006715480.1:p.Gly8795=
XM_006715420.2:c.26373C= (SYNE1) XP_006715483.1:p.Gly8791=
XM_006715421.2:c.26370C= (SYNE1) XP_006715484.1:p.Gly8790=
XM_006715423.2:c.*190C= (SYNE1) XP_006715486.1:n.*190C=
XM_006715424.2:c.*190C= (SYNE1) XP_006715487.1:n.*190C=
XM_006715425.2:c.*190C= (SYNE1) XP_006715488.1:n.*190C=
XM_011535641.2:c.26523C= (SYNE1) XP_011533943.1:p.Gly8841=
XM_011535642.2:c.26511C= (SYNE1) XP_011533944.1:p.Gly8837=
XM_011535645.2:c.24294C= (SYNE1) XP_011533947.1:p.Gly8098=
XM_017010608.1:c.26526C= (SYNE1) XP_016866097.1:p.Gly8842=
XM_017010609.1:c.26526C= (SYNE1) XP_016866098.1:p.Gly8842=
XM_017010610.1:c.26505C= (SYNE1) XP_016866099.1:p.Gly8835=
XM_017010611.2:c.26499C= (SYNE1) XP_016866100.1:p.Gly8833=
XM_017010612.1:c.26448C= (SYNE1) XP_016866101.1:p.Gly8816=
XM_017010613.1:c.26412C= (SYNE1) XP_016866102.1:p.Gly8804=
XM_017010614.1:c.26370C= (SYNE1) XP_016866103.1:p.Gly8790=
XM_017010615.1:c.26259C= (SYNE1) XP_016866104.1:p.Gly8753=
XM_017010616.1:c.*190C= (SYNE1) XP_016866105.1:n.*190C=
XM_017010617.1:c.*190C= (SYNE1) XP_016866106.1:n.*190C=
XM_017010618.1:c.*190C= (SYNE1) XP_016866107.1:n.*190C=
XM_017010619.1:c.24801C= (SYNE1) XP_016866108.1:p.Gly8267=
NM_182961.4:c.26379C= (SYNE1) MANE Select NP_892006.3:p.Gly8793=
NM_001328100.2:c.851-2815G= (ESR1) NP_001315029.1:n.851-2815G=
NM_001347701.2:c.*190C= (SYNE1) NP_001334630.1:n.*190C=
NM_001347702.2:c.2913C= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly971=
NM_033071.5:c.26235C= (SYNE1) NP_149062.2:p.Gly8745=