Canonical Allele Identifier: CA4052588

Linked Data

dbSNP Id: rs772954024

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122517G>A , CM000668.2:g.152122517G>A GRCh38
NC_000006.11:g.152443652G>A , CM000668.1:g.152443652G>A GRCh37
NC_000006.10:g.152485345G>A NCBI36
NG_012855.1:g.519883C>T
NG_008493.2:g.470827G>A
NG_012855.2:g.519883C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2847C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Asp949=
ENST00000367255.10:c.26313C>T (SYNE1) MANE Select ENSP00000356224.5:p.Asp8771=
ENST00000423061.6:c.26169C>T (SYNE1) ENSP00000396024.1:p.Asp8723=
ENST00000672154.1:c.1656C>T (SYNE1)
ENST00000672169.1:c.2031C>T (SYNE1)
ENST00000673173.1:c.1898C>T (SYNE1)
ENST00000673451.1:c.2163C>T (SYNE1) ENSP00000500189.1:n.2163C>T
ENST00000341594.9:c.25098C>T (SYNE1) ENSP00000341887.6:p.Asp8366=
ENST00000347037.9:n.3061C>T (SYNE1)
ENST00000354674.4:c.2847C>T (SYNE1) ENSP00000346701.4:p.Asp949=
ENST00000367251.7:c.5089C>T (SYNE1) ENSP00000356220.3:n.5089C>T
ENST00000367255.9:c.26313C>T (SYNE1) ENSP00000356224.5:p.Asp8771=
ENST00000367256.9:n.10005C>T (SYNE1)
ENST00000367257.8:c.4192C>T (SYNE1) ENSP00000356226.4:n.4192C>T
ENST00000409694.6:n.9897C>T (SYNE1)
ENST00000423061.5:c.26169C>T (SYNE1) ENSP00000396024.1:p.Asp8723=
ENST00000427531.6:c.851-2749G>A (ESR1) ENSP00000394721.2:n.851-2749G>A
ENST00000460912.6:n.2927C>T (SYNE1)
ENST00000478916.5:n.6950C>T (SYNE1)
ENST00000539504.5:c.2778C>T (SYNE1) ENSP00000441052.1:p.Asp926=
NM_033071.3:c.26169C>T (SYNE1) NP_149062.1:p.Asp8723=
NM_182961.3:c.26313C>T (SYNE1) NP_892006.3:p.Asp8771=
XM_006715407.1:c.26460C>T (SYNE1) XP_006715470.1:p.Asp8820=
XM_006715408.1:c.26448C>T (SYNE1) XP_006715471.1:p.Asp8816=
XM_006715409.1:c.26439C>T (SYNE1) XP_006715472.1:p.Asp8813=
XM_006715410.1:c.26418C>T (SYNE1) XP_006715473.1:p.Asp8806=
XM_006715411.1:c.26409C>T (SYNE1) XP_006715474.1:p.Asp8803=
XM_006715412.1:c.26403C>T (SYNE1) XP_006715475.1:p.Asp8801=
XM_006715413.1:c.26391C>T (SYNE1) XP_006715476.1:p.Asp8797=
XM_006715414.1:c.26388C>T (SYNE1) XP_006715477.1:p.Asp8796=
XM_006715415.1:c.26349C>T (SYNE1) XP_006715478.1:p.Asp8783=
XM_006715416.1:c.26334C>T (SYNE1) XP_006715479.1:p.Asp8778=
XM_006715417.1:c.26319C>T (SYNE1) XP_006715480.1:p.Asp8773=
XM_006715420.1:c.26307C>T (SYNE1) XP_006715483.1:p.Asp8769=
XM_006715421.1:c.26304C>T (SYNE1) XP_006715484.1:p.Asp8768=
XM_006715422.1:c.26301C>T (SYNE1) XP_006715485.1:p.Asp8767=
XM_006715423.1:c.*124C>T (SYNE1) XP_006715486.1:n.*124C>T
XM_006715424.1:c.*124C>T (SYNE1) XP_006715487.1:n.*124C>T
XM_006715425.1:c.*124C>T (SYNE1) XP_006715488.1:n.*124C>T
XM_011535641.1:c.26457C>T (SYNE1) XP_011533943.1:p.Asp8819=
XM_011535642.1:c.26445C>T (SYNE1) XP_011533944.1:p.Asp8815=
XM_011535643.1:c.26295C>T (SYNE1) XP_011533945.1:p.Asp8765=
XM_011535644.1:c.24735C>T (SYNE1) XP_011533946.1:p.Asp8245=
XM_011535645.1:c.24228C>T (SYNE1) XP_011533947.1:p.Asp8076=
XM_011535647.1:c.19695C>T (SYNE1) XP_011533949.1:p.Asp6565=
NM_001328100.1:c.851-2749G>A (ESR1) NP_001315029.1:n.851-2749G>A
NM_001347701.1:c.*124C>T (SYNE1) NP_001334630.1:n.*124C>T
NM_001347702.1:c.2847C>T (SYNE1) NP_001334631.1:p.Asp949=
XM_006715408.2:c.26448C>T (SYNE1) XP_006715471.1:p.Asp8816=
XM_006715410.2:c.26418C>T (SYNE1) XP_006715473.1:p.Asp8806=
XM_006715412.2:c.26403C>T (SYNE1) XP_006715475.1:p.Asp8801=
XM_006715413.2:c.26391C>T (SYNE1) XP_006715476.1:p.Asp8797=
XM_006715415.2:c.26349C>T (SYNE1) XP_006715478.1:p.Asp8783=
XM_006715416.2:c.26334C>T (SYNE1) XP_006715479.1:p.Asp8778=
XM_006715417.2:c.26319C>T (SYNE1) XP_006715480.1:p.Asp8773=
XM_006715420.2:c.26307C>T (SYNE1) XP_006715483.1:p.Asp8769=
XM_006715421.2:c.26304C>T (SYNE1) XP_006715484.1:p.Asp8768=
XM_006715423.2:c.*124C>T (SYNE1) XP_006715486.1:n.*124C>T
XM_006715424.2:c.*124C>T (SYNE1) XP_006715487.1:n.*124C>T
XM_006715425.2:c.*124C>T (SYNE1) XP_006715488.1:n.*124C>T
XM_011535641.2:c.26457C>T (SYNE1) XP_011533943.1:p.Asp8819=
XM_011535642.2:c.26445C>T (SYNE1) XP_011533944.1:p.Asp8815=
XM_011535645.2:c.24228C>T (SYNE1) XP_011533947.1:p.Asp8076=
XM_017010608.1:c.26460C>T (SYNE1) XP_016866097.1:p.Asp8820=
XM_017010609.1:c.26460C>T (SYNE1) XP_016866098.1:p.Asp8820=
XM_017010610.1:c.26439C>T (SYNE1) XP_016866099.1:p.Asp8813=
XM_017010611.2:c.26433C>T (SYNE1) XP_016866100.1:p.Asp8811=
XM_017010612.1:c.26382C>T (SYNE1) XP_016866101.1:p.Asp8794=
XM_017010613.1:c.26346C>T (SYNE1) XP_016866102.1:p.Asp8782=
XM_017010614.1:c.26304C>T (SYNE1) XP_016866103.1:p.Asp8768=
XM_017010615.1:c.26193C>T (SYNE1) XP_016866104.1:p.Asp8731=
XM_017010616.1:c.*124C>T (SYNE1) XP_016866105.1:n.*124C>T
XM_017010617.1:c.*124C>T (SYNE1) XP_016866106.1:n.*124C>T
XM_017010618.1:c.*124C>T (SYNE1) XP_016866107.1:n.*124C>T
XM_017010619.1:c.24735C>T (SYNE1) XP_016866108.1:p.Asp8245=
NM_182961.4:c.26313C>T (SYNE1) MANE Select NP_892006.3:p.Asp8771=
NM_001328100.2:c.851-2749G>A (ESR1) NP_001315029.1:n.851-2749G>A
NM_001347701.2:c.*124C>T (SYNE1) NP_001334630.1:n.*124C>T
NM_001347702.2:c.2847C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Asp949=
NM_033071.5:c.26169C>T (SYNE1) NP_149062.2:p.Asp8723=