Canonical Allele Identifier: CA366088582

Linked Data

dbSNP Id: rs2051629588

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2875G>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ala959Ser
ENST00000367255.10:c.26341G>T (SYNE1) MANE Select ENSP00000356224.5:p.Ala8781Ser
ENST00000423061.6:c.26197G>T (SYNE1) ENSP00000396024.1:p.Ala8733Ser
ENST00000672154.1:c.1684G>T (SYNE1)
ENST00000672169.1:c.2059G>T (SYNE1)
ENST00000673173.1:c.1926G>T (SYNE1)
ENST00000673451.1:c.2191G>T (SYNE1) ENSP00000500189.1:n.2191G>T
ENST00000341594.9:c.25126G>T (SYNE1) ENSP00000341887.6:p.Ala8376Ser
ENST00000347037.9:n.3089G>T (SYNE1)
ENST00000354674.4:c.2875G>T (SYNE1) ENSP00000346701.4:p.Ala959Ser
ENST00000367251.7:c.5117G>T (SYNE1) ENSP00000356220.3:n.5117G>T
ENST00000367255.9:c.26341G>T (SYNE1) ENSP00000356224.5:p.Ala8781Ser
ENST00000367256.9:n.10033G>T (SYNE1)
ENST00000367257.8:c.4220G>T (SYNE1) ENSP00000356226.4:n.4220G>T
ENST00000409694.6:n.9925G>T (SYNE1)
ENST00000423061.5:c.26197G>T (SYNE1) ENSP00000396024.1:p.Ala8733Ser
ENST00000427531.6:c.851-2777C>A (ESR1) ENSP00000394721.2:n.851-2777C>A
ENST00000460912.6:n.2955G>T (SYNE1)
ENST00000478916.5:n.6978G>T (SYNE1)
ENST00000539504.5:c.2806G>T (SYNE1) ENSP00000441052.1:p.Ala936Ser
NM_033071.3:c.26197G>T (SYNE1) NP_149062.1:p.Ala8733Ser
NM_182961.3:c.26341G>T (SYNE1) NP_892006.3:p.Ala8781Ser
XM_006715407.1:c.26488G>T (SYNE1) XP_006715470.1:p.Ala8830Ser
XM_006715408.1:c.26476G>T (SYNE1) XP_006715471.1:p.Ala8826Ser
XM_006715409.1:c.26467G>T (SYNE1) XP_006715472.1:p.Ala8823Ser
XM_006715410.1:c.26446G>T (SYNE1) XP_006715473.1:p.Ala8816Ser
XM_006715411.1:c.26437G>T (SYNE1) XP_006715474.1:p.Ala8813Ser
XM_006715412.1:c.26431G>T (SYNE1) XP_006715475.1:p.Ala8811Ser
XM_006715413.1:c.26419G>T (SYNE1) XP_006715476.1:p.Ala8807Ser
XM_006715414.1:c.26416G>T (SYNE1) XP_006715477.1:p.Ala8806Ser
XM_006715415.1:c.26377G>T (SYNE1) XP_006715478.1:p.Ala8793Ser
XM_006715416.1:c.26362G>T (SYNE1) XP_006715479.1:p.Ala8788Ser
XM_006715417.1:c.26347G>T (SYNE1) XP_006715480.1:p.Ala8783Ser
XM_006715420.1:c.26335G>T (SYNE1) XP_006715483.1:p.Ala8779Ser
XM_006715421.1:c.26332G>T (SYNE1) XP_006715484.1:p.Ala8778Ser
XM_006715422.1:c.26329G>T (SYNE1) XP_006715485.1:p.Ala8777Ser
XM_006715423.1:c.*152G>T (SYNE1) XP_006715486.1:n.*152G>T
XM_006715424.1:c.*152G>T (SYNE1) XP_006715487.1:n.*152G>T
XM_006715425.1:c.*152G>T (SYNE1) XP_006715488.1:n.*152G>T
XM_011535641.1:c.26485G>T (SYNE1) XP_011533943.1:p.Ala8829Ser
XM_011535642.1:c.26473G>T (SYNE1) XP_011533944.1:p.Ala8825Ser
XM_011535643.1:c.26323G>T (SYNE1) XP_011533945.1:p.Ala8775Ser
XM_011535644.1:c.24763G>T (SYNE1) XP_011533946.1:p.Ala8255Ser
XM_011535645.1:c.24256G>T (SYNE1) XP_011533947.1:p.Ala8086Ser
XM_011535647.1:c.19723G>T (SYNE1) XP_011533949.1:p.Ala6575Ser
NM_001328100.1:c.851-2777C>A (ESR1) NP_001315029.1:n.851-2777C>A
NM_001347701.1:c.*152G>T (SYNE1) NP_001334630.1:n.*152G>T
NM_001347702.1:c.2875G>T (SYNE1) NP_001334631.1:p.Ala959Ser
XM_006715408.2:c.26476G>T (SYNE1) XP_006715471.1:p.Ala8826Ser
XM_006715410.2:c.26446G>T (SYNE1) XP_006715473.1:p.Ala8816Ser
XM_006715412.2:c.26431G>T (SYNE1) XP_006715475.1:p.Ala8811Ser
XM_006715413.2:c.26419G>T (SYNE1) XP_006715476.1:p.Ala8807Ser
XM_006715415.2:c.26377G>T (SYNE1) XP_006715478.1:p.Ala8793Ser
XM_006715416.2:c.26362G>T (SYNE1) XP_006715479.1:p.Ala8788Ser
XM_006715417.2:c.26347G>T (SYNE1) XP_006715480.1:p.Ala8783Ser
XM_006715420.2:c.26335G>T (SYNE1) XP_006715483.1:p.Ala8779Ser
XM_006715421.2:c.26332G>T (SYNE1) XP_006715484.1:p.Ala8778Ser
XM_006715423.2:c.*152G>T (SYNE1) XP_006715486.1:n.*152G>T
XM_006715424.2:c.*152G>T (SYNE1) XP_006715487.1:n.*152G>T
XM_006715425.2:c.*152G>T (SYNE1) XP_006715488.1:n.*152G>T
XM_011535641.2:c.26485G>T (SYNE1) XP_011533943.1:p.Ala8829Ser
XM_011535642.2:c.26473G>T (SYNE1) XP_011533944.1:p.Ala8825Ser
XM_011535645.2:c.24256G>T (SYNE1) XP_011533947.1:p.Ala8086Ser
XM_017010608.1:c.26488G>T (SYNE1) XP_016866097.1:p.Ala8830Ser
XM_017010609.1:c.26488G>T (SYNE1) XP_016866098.1:p.Ala8830Ser
XM_017010610.1:c.26467G>T (SYNE1) XP_016866099.1:p.Ala8823Ser
XM_017010611.2:c.26461G>T (SYNE1) XP_016866100.1:p.Ala8821Ser
XM_017010612.1:c.26410G>T (SYNE1) XP_016866101.1:p.Ala8804Ser
XM_017010613.1:c.26374G>T (SYNE1) XP_016866102.1:p.Ala8792Ser
XM_017010614.1:c.26332G>T (SYNE1) XP_016866103.1:p.Ala8778Ser
XM_017010615.1:c.26221G>T (SYNE1) XP_016866104.1:p.Ala8741Ser
XM_017010616.1:c.*152G>T (SYNE1) XP_016866105.1:n.*152G>T
XM_017010617.1:c.*152G>T (SYNE1) XP_016866106.1:n.*152G>T
XM_017010618.1:c.*152G>T (SYNE1) XP_016866107.1:n.*152G>T
XM_017010619.1:c.24763G>T (SYNE1) XP_016866108.1:p.Ala8255Ser
NM_182961.4:c.26341G>T (SYNE1) MANE Select NP_892006.3:p.Ala8781Ser
NM_001328100.2:c.851-2777C>A (ESR1) NP_001315029.1:n.851-2777C>A
NM_001347701.2:c.*152G>T (SYNE1) NP_001334630.1:n.*152G>T
NM_001347702.2:c.2875G>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ala959Ser
NM_033071.5:c.26197G>T (SYNE1) NP_149062.2:p.Ala8733Ser