Canonical Allele Identifier: CA366088454

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122461T>A , CM000668.2:g.152122461T>A GRCh38
NC_000006.11:g.152443596T>A , CM000668.1:g.152443596T>A GRCh37
NC_000006.10:g.152485289T>A NCBI36
NG_012855.1:g.519939A>T
NG_008493.2:g.470771T>A
NG_012855.2:g.519939A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2903A>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Tyr968Phe
ENST00000367255.10:c.26369A>T (SYNE1) MANE Select ENSP00000356224.5:p.Tyr8790Phe
ENST00000423061.6:c.26225A>T (SYNE1) ENSP00000396024.1:p.Tyr8742Phe
ENST00000672154.1:c.1712A>T (SYNE1)
ENST00000672169.1:c.2087A>T (SYNE1)
ENST00000673173.1:c.1954A>T (SYNE1)
ENST00000673451.1:c.2219A>T (SYNE1) ENSP00000500189.1:n.2219A>T
ENST00000341594.9:c.25154A>T (SYNE1) ENSP00000341887.6:p.Tyr8385Phe
ENST00000347037.9:n.3117A>T (SYNE1)
ENST00000354674.4:c.2903A>T (SYNE1) ENSP00000346701.4:p.Tyr968Phe
ENST00000367251.7:c.5145A>T (SYNE1) ENSP00000356220.3:n.5145A>T
ENST00000367255.9:c.26369A>T (SYNE1) ENSP00000356224.5:p.Tyr8790Phe
ENST00000367256.9:n.10061A>T (SYNE1)
ENST00000367257.8:c.4248A>T (SYNE1) ENSP00000356226.4:n.4248A>T
ENST00000409694.6:n.9953A>T (SYNE1)
ENST00000423061.5:c.26225A>T (SYNE1) ENSP00000396024.1:p.Tyr8742Phe
ENST00000427531.6:c.851-2805T>A (ESR1) ENSP00000394721.2:n.851-2805T>A
ENST00000460912.6:n.2983A>T (SYNE1)
ENST00000478916.5:n.7006A>T (SYNE1)
ENST00000539504.5:c.2834A>T (SYNE1) ENSP00000441052.1:p.Tyr945Phe
NM_033071.3:c.26225A>T (SYNE1) NP_149062.1:p.Tyr8742Phe
NM_182961.3:c.26369A>T (SYNE1) NP_892006.3:p.Tyr8790Phe
XM_006715407.1:c.26516A>T (SYNE1) XP_006715470.1:p.Tyr8839Phe
XM_006715408.1:c.26504A>T (SYNE1) XP_006715471.1:p.Tyr8835Phe
XM_006715409.1:c.26495A>T (SYNE1) XP_006715472.1:p.Tyr8832Phe
XM_006715410.1:c.26474A>T (SYNE1) XP_006715473.1:p.Tyr8825Phe
XM_006715411.1:c.26465A>T (SYNE1) XP_006715474.1:p.Tyr8822Phe
XM_006715412.1:c.26459A>T (SYNE1) XP_006715475.1:p.Tyr8820Phe
XM_006715413.1:c.26447A>T (SYNE1) XP_006715476.1:p.Tyr8816Phe
XM_006715414.1:c.26444A>T (SYNE1) XP_006715477.1:p.Tyr8815Phe
XM_006715415.1:c.26405A>T (SYNE1) XP_006715478.1:p.Tyr8802Phe
XM_006715416.1:c.26390A>T (SYNE1) XP_006715479.1:p.Tyr8797Phe
XM_006715417.1:c.26375A>T (SYNE1) XP_006715480.1:p.Tyr8792Phe
XM_006715420.1:c.26363A>T (SYNE1) XP_006715483.1:p.Tyr8788Phe
XM_006715421.1:c.26360A>T (SYNE1) XP_006715484.1:p.Tyr8787Phe
XM_006715422.1:c.26357A>T (SYNE1) XP_006715485.1:p.Tyr8786Phe
XM_006715423.1:c.*180A>T (SYNE1) XP_006715486.1:n.*180A>T
XM_006715424.1:c.*180A>T (SYNE1) XP_006715487.1:n.*180A>T
XM_006715425.1:c.*180A>T (SYNE1) XP_006715488.1:n.*180A>T
XM_011535641.1:c.26513A>T (SYNE1) XP_011533943.1:p.Tyr8838Phe
XM_011535642.1:c.26501A>T (SYNE1) XP_011533944.1:p.Tyr8834Phe
XM_011535643.1:c.26351A>T (SYNE1) XP_011533945.1:p.Tyr8784Phe
XM_011535644.1:c.24791A>T (SYNE1) XP_011533946.1:p.Tyr8264Phe
XM_011535645.1:c.24284A>T (SYNE1) XP_011533947.1:p.Tyr8095Phe
XM_011535647.1:c.19751A>T (SYNE1) XP_011533949.1:p.Tyr6584Phe
NM_001328100.1:c.851-2805T>A (ESR1) NP_001315029.1:n.851-2805T>A
NM_001347701.1:c.*180A>T (SYNE1) NP_001334630.1:n.*180A>T
NM_001347702.1:c.2903A>T (SYNE1) NP_001334631.1:p.Tyr968Phe
XM_006715408.2:c.26504A>T (SYNE1) XP_006715471.1:p.Tyr8835Phe
XM_006715410.2:c.26474A>T (SYNE1) XP_006715473.1:p.Tyr8825Phe
XM_006715412.2:c.26459A>T (SYNE1) XP_006715475.1:p.Tyr8820Phe
XM_006715413.2:c.26447A>T (SYNE1) XP_006715476.1:p.Tyr8816Phe
XM_006715415.2:c.26405A>T (SYNE1) XP_006715478.1:p.Tyr8802Phe
XM_006715416.2:c.26390A>T (SYNE1) XP_006715479.1:p.Tyr8797Phe
XM_006715417.2:c.26375A>T (SYNE1) XP_006715480.1:p.Tyr8792Phe
XM_006715420.2:c.26363A>T (SYNE1) XP_006715483.1:p.Tyr8788Phe
XM_006715421.2:c.26360A>T (SYNE1) XP_006715484.1:p.Tyr8787Phe
XM_006715423.2:c.*180A>T (SYNE1) XP_006715486.1:n.*180A>T
XM_006715424.2:c.*180A>T (SYNE1) XP_006715487.1:n.*180A>T
XM_006715425.2:c.*180A>T (SYNE1) XP_006715488.1:n.*180A>T
XM_011535641.2:c.26513A>T (SYNE1) XP_011533943.1:p.Tyr8838Phe
XM_011535642.2:c.26501A>T (SYNE1) XP_011533944.1:p.Tyr8834Phe
XM_011535645.2:c.24284A>T (SYNE1) XP_011533947.1:p.Tyr8095Phe
XM_017010608.1:c.26516A>T (SYNE1) XP_016866097.1:p.Tyr8839Phe
XM_017010609.1:c.26516A>T (SYNE1) XP_016866098.1:p.Tyr8839Phe
XM_017010610.1:c.26495A>T (SYNE1) XP_016866099.1:p.Tyr8832Phe
XM_017010611.2:c.26489A>T (SYNE1) XP_016866100.1:p.Tyr8830Phe
XM_017010612.1:c.26438A>T (SYNE1) XP_016866101.1:p.Tyr8813Phe
XM_017010613.1:c.26402A>T (SYNE1) XP_016866102.1:p.Tyr8801Phe
XM_017010614.1:c.26360A>T (SYNE1) XP_016866103.1:p.Tyr8787Phe
XM_017010615.1:c.26249A>T (SYNE1) XP_016866104.1:p.Tyr8750Phe
XM_017010616.1:c.*180A>T (SYNE1) XP_016866105.1:n.*180A>T
XM_017010617.1:c.*180A>T (SYNE1) XP_016866106.1:n.*180A>T
XM_017010618.1:c.*180A>T (SYNE1) XP_016866107.1:n.*180A>T
XM_017010619.1:c.24791A>T (SYNE1) XP_016866108.1:p.Tyr8264Phe
NM_182961.4:c.26369A>T (SYNE1) MANE Select NP_892006.3:p.Tyr8790Phe
NM_001328100.2:c.851-2805T>A (ESR1) NP_001315029.1:n.851-2805T>A
NM_001347701.2:c.*180A>T (SYNE1) NP_001334630.1:n.*180A>T
NM_001347702.2:c.2903A>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Tyr968Phe
NM_033071.5:c.26225A>T (SYNE1) NP_149062.2:p.Tyr8742Phe