Canonical Allele Identifier: CA1673189215

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122635C= , CM000668.2:g.152122635C= GRCh38
NC_000006.11:g.152443770C= , CM000668.1:g.152443770C= GRCh37
NC_000006.10:g.152485463C= NCBI36
NG_012855.1:g.519765G=
NG_008493.2:g.470945C=
NG_012855.2:g.519765G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2729G= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly910=
ENST00000367255.10:c.26195G= (SYNE1) MANE Select ENSP00000356224.5:p.Gly8732=
ENST00000423061.6:c.26051G= (SYNE1) ENSP00000396024.1:p.Gly8684=
ENST00000672154.1:c.1538G= (SYNE1)
ENST00000672169.1:c.1913G= (SYNE1)
ENST00000673173.1:c.1780G= (SYNE1)
ENST00000673451.1:c.2045G= (SYNE1) ENSP00000500189.1:n.2045G=
ENST00000341594.9:c.24980G= (SYNE1) ENSP00000341887.6:p.Gly8327=
ENST00000347037.9:n.2943G= (SYNE1)
ENST00000354674.4:c.2729G= (SYNE1) ENSP00000346701.4:p.Gly910=
ENST00000367251.7:c.4971G= (SYNE1) ENSP00000356220.3:n.4971G=
ENST00000367255.9:c.26195G= (SYNE1) ENSP00000356224.5:p.Gly8732=
ENST00000367256.9:n.9887G= (SYNE1)
ENST00000367257.8:c.4074G= (SYNE1) ENSP00000356226.4:n.4074G=
ENST00000409694.6:n.9779G= (SYNE1)
ENST00000423061.5:c.26051G= (SYNE1) ENSP00000396024.1:p.Gly8684=
ENST00000427531.6:c.851-2631C= (ESR1) ENSP00000394721.2:n.851-2631C=
ENST00000460912.6:n.2809G= (SYNE1)
ENST00000478916.5:n.6832G= (SYNE1)
ENST00000536990.5:n.2973G= (SYNE1)
ENST00000539504.5:c.2660G= (SYNE1) ENSP00000441052.1:p.Gly887=
NM_033071.3:c.26051G= (SYNE1) NP_149062.1:p.Gly8684=
NM_182961.3:c.26195G= (SYNE1) NP_892006.3:p.Gly8732=
XM_006715407.1:c.26342G= (SYNE1) XP_006715470.1:p.Gly8781=
XM_006715408.1:c.26330G= (SYNE1) XP_006715471.1:p.Gly8777=
XM_006715409.1:c.26321G= (SYNE1) XP_006715472.1:p.Gly8774=
XM_006715410.1:c.26300G= (SYNE1) XP_006715473.1:p.Gly8767=
XM_006715411.1:c.26291G= (SYNE1) XP_006715474.1:p.Gly8764=
XM_006715412.1:c.26285G= (SYNE1) XP_006715475.1:p.Gly8762=
XM_006715413.1:c.26273G= (SYNE1) XP_006715476.1:p.Gly8758=
XM_006715414.1:c.26270G= (SYNE1) XP_006715477.1:p.Gly8757=
XM_006715415.1:c.26231G= (SYNE1) XP_006715478.1:p.Gly8744=
XM_006715416.1:c.26216G= (SYNE1) XP_006715479.1:p.Gly8739=
XM_006715417.1:c.26201G= (SYNE1) XP_006715480.1:p.Gly8734=
XM_006715420.1:c.26189G= (SYNE1) XP_006715483.1:p.Gly8730=
XM_006715421.1:c.26186G= (SYNE1) XP_006715484.1:p.Gly8729=
XM_006715422.1:c.26183G= (SYNE1) XP_006715485.1:p.Gly8728=
XM_006715423.1:c.*6G= (SYNE1) XP_006715486.1:n.*6G=
XM_006715424.1:c.*6G= (SYNE1) XP_006715487.1:n.*6G=
XM_006715425.1:c.*6G= (SYNE1) XP_006715488.1:n.*6G=
XM_011535641.1:c.26339G= (SYNE1) XP_011533943.1:p.Gly8780=
XM_011535642.1:c.26327G= (SYNE1) XP_011533944.1:p.Gly8776=
XM_011535643.1:c.26177G= (SYNE1) XP_011533945.1:p.Gly8726=
XM_011535644.1:c.24617G= (SYNE1) XP_011533946.1:p.Gly8206=
XM_011535645.1:c.24110G= (SYNE1) XP_011533947.1:p.Gly8037=
XM_011535647.1:c.19577G= (SYNE1) XP_011533949.1:p.Gly6526=
NM_001328100.1:c.851-2631C= (ESR1) NP_001315029.1:n.851-2631C=
NM_001347701.1:c.*6G= (SYNE1) NP_001334630.1:n.*6G=
NM_001347702.1:c.2729G= (SYNE1) NP_001334631.1:p.Gly910=
XM_006715408.2:c.26330G= (SYNE1) XP_006715471.1:p.Gly8777=
XM_006715410.2:c.26300G= (SYNE1) XP_006715473.1:p.Gly8767=
XM_006715412.2:c.26285G= (SYNE1) XP_006715475.1:p.Gly8762=
XM_006715413.2:c.26273G= (SYNE1) XP_006715476.1:p.Gly8758=
XM_006715415.2:c.26231G= (SYNE1) XP_006715478.1:p.Gly8744=
XM_006715416.2:c.26216G= (SYNE1) XP_006715479.1:p.Gly8739=
XM_006715417.2:c.26201G= (SYNE1) XP_006715480.1:p.Gly8734=
XM_006715420.2:c.26189G= (SYNE1) XP_006715483.1:p.Gly8730=
XM_006715421.2:c.26186G= (SYNE1) XP_006715484.1:p.Gly8729=
XM_006715423.2:c.*6G= (SYNE1) XP_006715486.1:n.*6G=
XM_006715424.2:c.*6G= (SYNE1) XP_006715487.1:n.*6G=
XM_006715425.2:c.*6G= (SYNE1) XP_006715488.1:n.*6G=
XM_011535641.2:c.26339G= (SYNE1) XP_011533943.1:p.Gly8780=
XM_011535642.2:c.26327G= (SYNE1) XP_011533944.1:p.Gly8776=
XM_011535645.2:c.24110G= (SYNE1) XP_011533947.1:p.Gly8037=
XM_017010608.1:c.26342G= (SYNE1) XP_016866097.1:p.Gly8781=
XM_017010609.1:c.26342G= (SYNE1) XP_016866098.1:p.Gly8781=
XM_017010610.1:c.26321G= (SYNE1) XP_016866099.1:p.Gly8774=
XM_017010611.2:c.26315G= (SYNE1) XP_016866100.1:p.Gly8772=
XM_017010612.1:c.26264G= (SYNE1) XP_016866101.1:p.Gly8755=
XM_017010613.1:c.26228G= (SYNE1) XP_016866102.1:p.Gly8743=
XM_017010614.1:c.26186G= (SYNE1) XP_016866103.1:p.Gly8729=
XM_017010615.1:c.26075G= (SYNE1) XP_016866104.1:p.Gly8692=
XM_017010616.1:c.*6G= (SYNE1) XP_016866105.1:n.*6G=
XM_017010617.1:c.*6G= (SYNE1) XP_016866106.1:n.*6G=
XM_017010618.1:c.*6G= (SYNE1) XP_016866107.1:n.*6G=
XM_017010619.1:c.24617G= (SYNE1) XP_016866108.1:p.Gly8206=
NM_182961.4:c.26195G= (SYNE1) MANE Select NP_892006.3:p.Gly8732=
NM_001328100.2:c.851-2631C= (ESR1) NP_001315029.1:n.851-2631C=
NM_001347701.2:c.*6G= (SYNE1) NP_001334630.1:n.*6G=
NM_001347702.2:c.2729G= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly910=
NM_033071.5:c.26051G= (SYNE1) NP_149062.2:p.Gly8684=