Canonical Allele Identifier: CA366088584

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122489C>G , CM000668.2:g.152122489C>G GRCh38
NC_000006.11:g.152443624C>G , CM000668.1:g.152443624C>G GRCh37
NC_000006.10:g.152485317C>G NCBI36
NG_012855.1:g.519911G>C
NG_008493.2:g.470799C>G
NG_012855.2:g.519911G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2875G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ala959Pro
ENST00000367255.10:c.26341G>C (SYNE1) MANE Select ENSP00000356224.5:p.Ala8781Pro
ENST00000423061.6:c.26197G>C (SYNE1) ENSP00000396024.1:p.Ala8733Pro
ENST00000672154.1:c.1684G>C (SYNE1)
ENST00000672169.1:c.2059G>C (SYNE1)
ENST00000673173.1:c.1926G>C (SYNE1)
ENST00000673451.1:c.2191G>C (SYNE1) ENSP00000500189.1:n.2191G>C
ENST00000341594.9:c.25126G>C (SYNE1) ENSP00000341887.6:p.Ala8376Pro
ENST00000347037.9:n.3089G>C (SYNE1)
ENST00000354674.4:c.2875G>C (SYNE1) ENSP00000346701.4:p.Ala959Pro
ENST00000367251.7:c.5117G>C (SYNE1) ENSP00000356220.3:n.5117G>C
ENST00000367255.9:c.26341G>C (SYNE1) ENSP00000356224.5:p.Ala8781Pro
ENST00000367256.9:n.10033G>C (SYNE1)
ENST00000367257.8:c.4220G>C (SYNE1) ENSP00000356226.4:n.4220G>C
ENST00000409694.6:n.9925G>C (SYNE1)
ENST00000423061.5:c.26197G>C (SYNE1) ENSP00000396024.1:p.Ala8733Pro
ENST00000427531.6:c.851-2777C>G (ESR1) ENSP00000394721.2:n.851-2777C>G
ENST00000460912.6:n.2955G>C (SYNE1)
ENST00000478916.5:n.6978G>C (SYNE1)
ENST00000539504.5:c.2806G>C (SYNE1) ENSP00000441052.1:p.Ala936Pro
NM_033071.3:c.26197G>C (SYNE1) NP_149062.1:p.Ala8733Pro
NM_182961.3:c.26341G>C (SYNE1) NP_892006.3:p.Ala8781Pro
XM_006715407.1:c.26488G>C (SYNE1) XP_006715470.1:p.Ala8830Pro
XM_006715408.1:c.26476G>C (SYNE1) XP_006715471.1:p.Ala8826Pro
XM_006715409.1:c.26467G>C (SYNE1) XP_006715472.1:p.Ala8823Pro
XM_006715410.1:c.26446G>C (SYNE1) XP_006715473.1:p.Ala8816Pro
XM_006715411.1:c.26437G>C (SYNE1) XP_006715474.1:p.Ala8813Pro
XM_006715412.1:c.26431G>C (SYNE1) XP_006715475.1:p.Ala8811Pro
XM_006715413.1:c.26419G>C (SYNE1) XP_006715476.1:p.Ala8807Pro
XM_006715414.1:c.26416G>C (SYNE1) XP_006715477.1:p.Ala8806Pro
XM_006715415.1:c.26377G>C (SYNE1) XP_006715478.1:p.Ala8793Pro
XM_006715416.1:c.26362G>C (SYNE1) XP_006715479.1:p.Ala8788Pro
XM_006715417.1:c.26347G>C (SYNE1) XP_006715480.1:p.Ala8783Pro
XM_006715420.1:c.26335G>C (SYNE1) XP_006715483.1:p.Ala8779Pro
XM_006715421.1:c.26332G>C (SYNE1) XP_006715484.1:p.Ala8778Pro
XM_006715422.1:c.26329G>C (SYNE1) XP_006715485.1:p.Ala8777Pro
XM_006715423.1:c.*152G>C (SYNE1) XP_006715486.1:n.*152G>C
XM_006715424.1:c.*152G>C (SYNE1) XP_006715487.1:n.*152G>C
XM_006715425.1:c.*152G>C (SYNE1) XP_006715488.1:n.*152G>C
XM_011535641.1:c.26485G>C (SYNE1) XP_011533943.1:p.Ala8829Pro
XM_011535642.1:c.26473G>C (SYNE1) XP_011533944.1:p.Ala8825Pro
XM_011535643.1:c.26323G>C (SYNE1) XP_011533945.1:p.Ala8775Pro
XM_011535644.1:c.24763G>C (SYNE1) XP_011533946.1:p.Ala8255Pro
XM_011535645.1:c.24256G>C (SYNE1) XP_011533947.1:p.Ala8086Pro
XM_011535647.1:c.19723G>C (SYNE1) XP_011533949.1:p.Ala6575Pro
NM_001328100.1:c.851-2777C>G (ESR1) NP_001315029.1:n.851-2777C>G
NM_001347701.1:c.*152G>C (SYNE1) NP_001334630.1:n.*152G>C
NM_001347702.1:c.2875G>C (SYNE1) NP_001334631.1:p.Ala959Pro
XM_006715408.2:c.26476G>C (SYNE1) XP_006715471.1:p.Ala8826Pro
XM_006715410.2:c.26446G>C (SYNE1) XP_006715473.1:p.Ala8816Pro
XM_006715412.2:c.26431G>C (SYNE1) XP_006715475.1:p.Ala8811Pro
XM_006715413.2:c.26419G>C (SYNE1) XP_006715476.1:p.Ala8807Pro
XM_006715415.2:c.26377G>C (SYNE1) XP_006715478.1:p.Ala8793Pro
XM_006715416.2:c.26362G>C (SYNE1) XP_006715479.1:p.Ala8788Pro
XM_006715417.2:c.26347G>C (SYNE1) XP_006715480.1:p.Ala8783Pro
XM_006715420.2:c.26335G>C (SYNE1) XP_006715483.1:p.Ala8779Pro
XM_006715421.2:c.26332G>C (SYNE1) XP_006715484.1:p.Ala8778Pro
XM_006715423.2:c.*152G>C (SYNE1) XP_006715486.1:n.*152G>C
XM_006715424.2:c.*152G>C (SYNE1) XP_006715487.1:n.*152G>C
XM_006715425.2:c.*152G>C (SYNE1) XP_006715488.1:n.*152G>C
XM_011535641.2:c.26485G>C (SYNE1) XP_011533943.1:p.Ala8829Pro
XM_011535642.2:c.26473G>C (SYNE1) XP_011533944.1:p.Ala8825Pro
XM_011535645.2:c.24256G>C (SYNE1) XP_011533947.1:p.Ala8086Pro
XM_017010608.1:c.26488G>C (SYNE1) XP_016866097.1:p.Ala8830Pro
XM_017010609.1:c.26488G>C (SYNE1) XP_016866098.1:p.Ala8830Pro
XM_017010610.1:c.26467G>C (SYNE1) XP_016866099.1:p.Ala8823Pro
XM_017010611.2:c.26461G>C (SYNE1) XP_016866100.1:p.Ala8821Pro
XM_017010612.1:c.26410G>C (SYNE1) XP_016866101.1:p.Ala8804Pro
XM_017010613.1:c.26374G>C (SYNE1) XP_016866102.1:p.Ala8792Pro
XM_017010614.1:c.26332G>C (SYNE1) XP_016866103.1:p.Ala8778Pro
XM_017010615.1:c.26221G>C (SYNE1) XP_016866104.1:p.Ala8741Pro
XM_017010616.1:c.*152G>C (SYNE1) XP_016866105.1:n.*152G>C
XM_017010617.1:c.*152G>C (SYNE1) XP_016866106.1:n.*152G>C
XM_017010618.1:c.*152G>C (SYNE1) XP_016866107.1:n.*152G>C
XM_017010619.1:c.24763G>C (SYNE1) XP_016866108.1:p.Ala8255Pro
NM_182961.4:c.26341G>C (SYNE1) MANE Select NP_892006.3:p.Ala8781Pro
NM_001328100.2:c.851-2777C>G (ESR1) NP_001315029.1:n.851-2777C>G
NM_001347701.2:c.*152G>C (SYNE1) NP_001334630.1:n.*152G>C
NM_001347702.2:c.2875G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ala959Pro
NM_033071.5:c.26197G>C (SYNE1) NP_149062.2:p.Ala8733Pro