Canonical Allele Identifier: CA1673188705

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122444G= , CM000668.2:g.152122444G= GRCh38
NC_000006.11:g.152443579G= , CM000668.1:g.152443579G= GRCh37
NC_000006.10:g.152485272G= NCBI36
NG_012855.1:g.519956C=
NG_008493.2:g.470754G=
NG_012855.2:g.519956C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2920C= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Pro974=
ENST00000367255.10:c.26386C= (SYNE1) MANE Select ENSP00000356224.5:p.Pro8796=
ENST00000423061.6:c.26242C= (SYNE1) ENSP00000396024.1:p.Pro8748=
ENST00000672154.1:c.1729C= (SYNE1)
ENST00000672169.1:c.2104C= (SYNE1)
ENST00000673173.1:c.1971C= (SYNE1)
ENST00000673451.1:c.2236C= (SYNE1) ENSP00000500189.1:n.2236C=
ENST00000341594.9:c.25171C= (SYNE1) ENSP00000341887.6:p.Pro8391=
ENST00000347037.9:n.3134C= (SYNE1)
ENST00000354674.4:c.2920C= (SYNE1) ENSP00000346701.4:p.Pro974=
ENST00000367251.7:c.5162C= (SYNE1) ENSP00000356220.3:n.5162C=
ENST00000367255.9:c.26386C= (SYNE1) ENSP00000356224.5:p.Pro8796=
ENST00000367256.9:n.10078C= (SYNE1)
ENST00000367257.8:c.4265C= (SYNE1) ENSP00000356226.4:n.4265C=
ENST00000409694.6:n.9970C= (SYNE1)
ENST00000423061.5:c.26242C= (SYNE1) ENSP00000396024.1:p.Pro8748=
ENST00000427531.6:c.851-2822G= (ESR1) ENSP00000394721.2:n.851-2822G=
ENST00000460912.6:n.3000C= (SYNE1)
ENST00000478916.5:n.7023C= (SYNE1)
ENST00000539504.5:c.2851C= (SYNE1) ENSP00000441052.1:p.Pro951=
NM_033071.3:c.26242C= (SYNE1) NP_149062.1:p.Pro8748=
NM_182961.3:c.26386C= (SYNE1) NP_892006.3:p.Pro8796=
XM_006715407.1:c.26533C= (SYNE1) XP_006715470.1:p.Pro8845=
XM_006715408.1:c.26521C= (SYNE1) XP_006715471.1:p.Pro8841=
XM_006715409.1:c.26512C= (SYNE1) XP_006715472.1:p.Pro8838=
XM_006715410.1:c.26491C= (SYNE1) XP_006715473.1:p.Pro8831=
XM_006715411.1:c.26482C= (SYNE1) XP_006715474.1:p.Pro8828=
XM_006715412.1:c.26476C= (SYNE1) XP_006715475.1:p.Pro8826=
XM_006715413.1:c.26464C= (SYNE1) XP_006715476.1:p.Pro8822=
XM_006715414.1:c.26461C= (SYNE1) XP_006715477.1:p.Pro8821=
XM_006715415.1:c.26422C= (SYNE1) XP_006715478.1:p.Pro8808=
XM_006715416.1:c.26407C= (SYNE1) XP_006715479.1:p.Pro8803=
XM_006715417.1:c.26392C= (SYNE1) XP_006715480.1:p.Pro8798=
XM_006715420.1:c.26380C= (SYNE1) XP_006715483.1:p.Pro8794=
XM_006715421.1:c.26377C= (SYNE1) XP_006715484.1:p.Pro8793=
XM_006715422.1:c.26374C= (SYNE1) XP_006715485.1:p.Pro8792=
XM_006715423.1:c.*197C= (SYNE1) XP_006715486.1:n.*197C=
XM_006715424.1:c.*197C= (SYNE1) XP_006715487.1:n.*197C=
XM_006715425.1:c.*197C= (SYNE1) XP_006715488.1:n.*197C=
XM_011535641.1:c.26530C= (SYNE1) XP_011533943.1:p.Pro8844=
XM_011535642.1:c.26518C= (SYNE1) XP_011533944.1:p.Pro8840=
XM_011535643.1:c.26368C= (SYNE1) XP_011533945.1:p.Pro8790=
XM_011535644.1:c.24808C= (SYNE1) XP_011533946.1:p.Pro8270=
XM_011535645.1:c.24301C= (SYNE1) XP_011533947.1:p.Pro8101=
XM_011535647.1:c.19768C= (SYNE1) XP_011533949.1:p.Pro6590=
NM_001328100.1:c.851-2822G= (ESR1) NP_001315029.1:n.851-2822G=
NM_001347701.1:c.*197C= (SYNE1) NP_001334630.1:n.*197C=
NM_001347702.1:c.2920C= (SYNE1) NP_001334631.1:p.Pro974=
XM_006715408.2:c.26521C= (SYNE1) XP_006715471.1:p.Pro8841=
XM_006715410.2:c.26491C= (SYNE1) XP_006715473.1:p.Pro8831=
XM_006715412.2:c.26476C= (SYNE1) XP_006715475.1:p.Pro8826=
XM_006715413.2:c.26464C= (SYNE1) XP_006715476.1:p.Pro8822=
XM_006715415.2:c.26422C= (SYNE1) XP_006715478.1:p.Pro8808=
XM_006715416.2:c.26407C= (SYNE1) XP_006715479.1:p.Pro8803=
XM_006715417.2:c.26392C= (SYNE1) XP_006715480.1:p.Pro8798=
XM_006715420.2:c.26380C= (SYNE1) XP_006715483.1:p.Pro8794=
XM_006715421.2:c.26377C= (SYNE1) XP_006715484.1:p.Pro8793=
XM_006715423.2:c.*197C= (SYNE1) XP_006715486.1:n.*197C=
XM_006715424.2:c.*197C= (SYNE1) XP_006715487.1:n.*197C=
XM_006715425.2:c.*197C= (SYNE1) XP_006715488.1:n.*197C=
XM_011535641.2:c.26530C= (SYNE1) XP_011533943.1:p.Pro8844=
XM_011535642.2:c.26518C= (SYNE1) XP_011533944.1:p.Pro8840=
XM_011535645.2:c.24301C= (SYNE1) XP_011533947.1:p.Pro8101=
XM_017010608.1:c.26533C= (SYNE1) XP_016866097.1:p.Pro8845=
XM_017010609.1:c.26533C= (SYNE1) XP_016866098.1:p.Pro8845=
XM_017010610.1:c.26512C= (SYNE1) XP_016866099.1:p.Pro8838=
XM_017010611.2:c.26506C= (SYNE1) XP_016866100.1:p.Pro8836=
XM_017010612.1:c.26455C= (SYNE1) XP_016866101.1:p.Pro8819=
XM_017010613.1:c.26419C= (SYNE1) XP_016866102.1:p.Pro8807=
XM_017010614.1:c.26377C= (SYNE1) XP_016866103.1:p.Pro8793=
XM_017010615.1:c.26266C= (SYNE1) XP_016866104.1:p.Pro8756=
XM_017010616.1:c.*197C= (SYNE1) XP_016866105.1:n.*197C=
XM_017010617.1:c.*197C= (SYNE1) XP_016866106.1:n.*197C=
XM_017010618.1:c.*197C= (SYNE1) XP_016866107.1:n.*197C=
XM_017010619.1:c.24808C= (SYNE1) XP_016866108.1:p.Pro8270=
NM_182961.4:c.26386C= (SYNE1) MANE Select NP_892006.3:p.Pro8796=
NM_001328100.2:c.851-2822G= (ESR1) NP_001315029.1:n.851-2822G=
NM_001347701.2:c.*197C= (SYNE1) NP_001334630.1:n.*197C=
NM_001347702.2:c.2920C= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Pro974=
NM_033071.5:c.26242C= (SYNE1) NP_149062.2:p.Pro8748=