Canonical Allele Identifier: CA1673188852

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122490A= , CM000668.2:g.152122490A= GRCh38
NC_000006.11:g.152443625A= , CM000668.1:g.152443625A= GRCh37
NC_000006.10:g.152485318A= NCBI36
NG_012855.1:g.519910T=
NG_008493.2:g.470800A=
NG_012855.2:g.519910T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2874T= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Phe958=
ENST00000367255.10:c.26340T= (SYNE1) MANE Select ENSP00000356224.5:p.Phe8780=
ENST00000423061.6:c.26196T= (SYNE1) ENSP00000396024.1:p.Phe8732=
ENST00000672154.1:c.1683T= (SYNE1)
ENST00000672169.1:c.2058T= (SYNE1)
ENST00000673173.1:c.1925T= (SYNE1)
ENST00000673451.1:c.2190T= (SYNE1) ENSP00000500189.1:n.2190T=
ENST00000341594.9:c.25125T= (SYNE1) ENSP00000341887.6:p.Phe8375=
ENST00000347037.9:n.3088T= (SYNE1)
ENST00000354674.4:c.2874T= (SYNE1) ENSP00000346701.4:p.Phe958=
ENST00000367251.7:c.5116T= (SYNE1) ENSP00000356220.3:n.5116T=
ENST00000367255.9:c.26340T= (SYNE1) ENSP00000356224.5:p.Phe8780=
ENST00000367256.9:n.10032T= (SYNE1)
ENST00000367257.8:c.4219T= (SYNE1) ENSP00000356226.4:n.4219T=
ENST00000409694.6:n.9924T= (SYNE1)
ENST00000423061.5:c.26196T= (SYNE1) ENSP00000396024.1:p.Phe8732=
ENST00000427531.6:c.851-2776A= (ESR1) ENSP00000394721.2:n.851-2776A=
ENST00000460912.6:n.2954T= (SYNE1)
ENST00000478916.5:n.6977T= (SYNE1)
ENST00000539504.5:c.2805T= (SYNE1) ENSP00000441052.1:p.Phe935=
NM_033071.3:c.26196T= (SYNE1) NP_149062.1:p.Phe8732=
NM_182961.3:c.26340T= (SYNE1) NP_892006.3:p.Phe8780=
XM_006715407.1:c.26487T= (SYNE1) XP_006715470.1:p.Phe8829=
XM_006715408.1:c.26475T= (SYNE1) XP_006715471.1:p.Phe8825=
XM_006715409.1:c.26466T= (SYNE1) XP_006715472.1:p.Phe8822=
XM_006715410.1:c.26445T= (SYNE1) XP_006715473.1:p.Phe8815=
XM_006715411.1:c.26436T= (SYNE1) XP_006715474.1:p.Phe8812=
XM_006715412.1:c.26430T= (SYNE1) XP_006715475.1:p.Phe8810=
XM_006715413.1:c.26418T= (SYNE1) XP_006715476.1:p.Phe8806=
XM_006715414.1:c.26415T= (SYNE1) XP_006715477.1:p.Phe8805=
XM_006715415.1:c.26376T= (SYNE1) XP_006715478.1:p.Phe8792=
XM_006715416.1:c.26361T= (SYNE1) XP_006715479.1:p.Phe8787=
XM_006715417.1:c.26346T= (SYNE1) XP_006715480.1:p.Phe8782=
XM_006715420.1:c.26334T= (SYNE1) XP_006715483.1:p.Phe8778=
XM_006715421.1:c.26331T= (SYNE1) XP_006715484.1:p.Phe8777=
XM_006715422.1:c.26328T= (SYNE1) XP_006715485.1:p.Phe8776=
XM_006715423.1:c.*151T= (SYNE1) XP_006715486.1:n.*151T=
XM_006715424.1:c.*151T= (SYNE1) XP_006715487.1:n.*151T=
XM_006715425.1:c.*151T= (SYNE1) XP_006715488.1:n.*151T=
XM_011535641.1:c.26484T= (SYNE1) XP_011533943.1:p.Phe8828=
XM_011535642.1:c.26472T= (SYNE1) XP_011533944.1:p.Phe8824=
XM_011535643.1:c.26322T= (SYNE1) XP_011533945.1:p.Phe8774=
XM_011535644.1:c.24762T= (SYNE1) XP_011533946.1:p.Phe8254=
XM_011535645.1:c.24255T= (SYNE1) XP_011533947.1:p.Phe8085=
XM_011535647.1:c.19722T= (SYNE1) XP_011533949.1:p.Phe6574=
NM_001328100.1:c.851-2776A= (ESR1) NP_001315029.1:n.851-2776A=
NM_001347701.1:c.*151T= (SYNE1) NP_001334630.1:n.*151T=
NM_001347702.1:c.2874T= (SYNE1) NP_001334631.1:p.Phe958=
XM_006715408.2:c.26475T= (SYNE1) XP_006715471.1:p.Phe8825=
XM_006715410.2:c.26445T= (SYNE1) XP_006715473.1:p.Phe8815=
XM_006715412.2:c.26430T= (SYNE1) XP_006715475.1:p.Phe8810=
XM_006715413.2:c.26418T= (SYNE1) XP_006715476.1:p.Phe8806=
XM_006715415.2:c.26376T= (SYNE1) XP_006715478.1:p.Phe8792=
XM_006715416.2:c.26361T= (SYNE1) XP_006715479.1:p.Phe8787=
XM_006715417.2:c.26346T= (SYNE1) XP_006715480.1:p.Phe8782=
XM_006715420.2:c.26334T= (SYNE1) XP_006715483.1:p.Phe8778=
XM_006715421.2:c.26331T= (SYNE1) XP_006715484.1:p.Phe8777=
XM_006715423.2:c.*151T= (SYNE1) XP_006715486.1:n.*151T=
XM_006715424.2:c.*151T= (SYNE1) XP_006715487.1:n.*151T=
XM_006715425.2:c.*151T= (SYNE1) XP_006715488.1:n.*151T=
XM_011535641.2:c.26484T= (SYNE1) XP_011533943.1:p.Phe8828=
XM_011535642.2:c.26472T= (SYNE1) XP_011533944.1:p.Phe8824=
XM_011535645.2:c.24255T= (SYNE1) XP_011533947.1:p.Phe8085=
XM_017010608.1:c.26487T= (SYNE1) XP_016866097.1:p.Phe8829=
XM_017010609.1:c.26487T= (SYNE1) XP_016866098.1:p.Phe8829=
XM_017010610.1:c.26466T= (SYNE1) XP_016866099.1:p.Phe8822=
XM_017010611.2:c.26460T= (SYNE1) XP_016866100.1:p.Phe8820=
XM_017010612.1:c.26409T= (SYNE1) XP_016866101.1:p.Phe8803=
XM_017010613.1:c.26373T= (SYNE1) XP_016866102.1:p.Phe8791=
XM_017010614.1:c.26331T= (SYNE1) XP_016866103.1:p.Phe8777=
XM_017010615.1:c.26220T= (SYNE1) XP_016866104.1:p.Phe8740=
XM_017010616.1:c.*151T= (SYNE1) XP_016866105.1:n.*151T=
XM_017010617.1:c.*151T= (SYNE1) XP_016866106.1:n.*151T=
XM_017010618.1:c.*151T= (SYNE1) XP_016866107.1:n.*151T=
XM_017010619.1:c.24762T= (SYNE1) XP_016866108.1:p.Phe8254=
NM_182961.4:c.26340T= (SYNE1) MANE Select NP_892006.3:p.Phe8780=
NM_001328100.2:c.851-2776A= (ESR1) NP_001315029.1:n.851-2776A=
NM_001347701.2:c.*151T= (SYNE1) NP_001334630.1:n.*151T=
NM_001347702.2:c.2874T= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Phe958=
NM_033071.5:c.26196T= (SYNE1) NP_149062.2:p.Phe8732=