Linked Data
ClinVar Variation Id:
593818
dbSNP Id:
rs567376316
ExAC:
6:152443593 G / T
gnomAD v2:
6-152443593-G-T
gnomAD v3:
6-152122458-G-T
gnomAD v4:
6-152122458-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122458G>T , CM000668.2:g.152122458G>T | GRCh38 |
| NC_000006.11:g.152443593G>T , CM000668.1:g.152443593G>T | GRCh37 |
| NC_000006.10:g.152485286G>T | NCBI36 |
| NG_012855.1:g.519942C>A | |
| NG_008493.2:g.470768G>T | |
| NG_012855.2:g.519942C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2906C>A (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Thr969Lys | |
| ENST00000367255.10:c.26372C>A (SYNE1) MANE Select | ENSP00000356224.5:p.Thr8791Lys | |
| ENST00000423061.6:c.26228C>A (SYNE1) | ENSP00000396024.1:p.Thr8743Lys | |
| ENST00000672154.1:c.1715C>A (SYNE1) | ||
| ENST00000672169.1:c.2090C>A (SYNE1) | ||
| ENST00000673173.1:c.1957C>A (SYNE1) | ||
| ENST00000673451.1:c.2222C>A (SYNE1) | ENSP00000500189.1:n.2222C>A | |
| ENST00000341594.9:c.25157C>A (SYNE1) | ENSP00000341887.6:p.Thr8386Lys | |
| ENST00000347037.9:n.3120C>A (SYNE1) | ||
| ENST00000354674.4:c.2906C>A (SYNE1) | ENSP00000346701.4:p.Thr969Lys | |
| ENST00000367251.7:c.5148C>A (SYNE1) | ENSP00000356220.3:n.5148C>A | |
| ENST00000367255.9:c.26372C>A (SYNE1) | ENSP00000356224.5:p.Thr8791Lys | |
| ENST00000367256.9:n.10064C>A (SYNE1) | ||
| ENST00000367257.8:c.4251C>A (SYNE1) | ENSP00000356226.4:n.4251C>A | |
| ENST00000409694.6:n.9956C>A (SYNE1) | ||
| ENST00000423061.5:c.26228C>A (SYNE1) | ENSP00000396024.1:p.Thr8743Lys | |
| ENST00000427531.6:c.851-2808G>T (ESR1) | ENSP00000394721.2:n.851-2808G>T | |
| ENST00000460912.6:n.2986C>A (SYNE1) | ||
| ENST00000478916.5:n.7009C>A (SYNE1) | ||
| ENST00000539504.5:c.2837C>A (SYNE1) | ENSP00000441052.1:p.Thr946Lys | |
| NM_033071.3:c.26228C>A (SYNE1) | NP_149062.1:p.Thr8743Lys | |
| NM_182961.3:c.26372C>A (SYNE1) | NP_892006.3:p.Thr8791Lys | |
| XM_006715407.1:c.26519C>A (SYNE1) | XP_006715470.1:p.Thr8840Lys | |
| XM_006715408.1:c.26507C>A (SYNE1) | XP_006715471.1:p.Thr8836Lys | |
| XM_006715409.1:c.26498C>A (SYNE1) | XP_006715472.1:p.Thr8833Lys | |
| XM_006715410.1:c.26477C>A (SYNE1) | XP_006715473.1:p.Thr8826Lys | |
| XM_006715411.1:c.26468C>A (SYNE1) | XP_006715474.1:p.Thr8823Lys | |
| XM_006715412.1:c.26462C>A (SYNE1) | XP_006715475.1:p.Thr8821Lys | |
| XM_006715413.1:c.26450C>A (SYNE1) | XP_006715476.1:p.Thr8817Lys | |
| XM_006715414.1:c.26447C>A (SYNE1) | XP_006715477.1:p.Thr8816Lys | |
| XM_006715415.1:c.26408C>A (SYNE1) | XP_006715478.1:p.Thr8803Lys | |
| XM_006715416.1:c.26393C>A (SYNE1) | XP_006715479.1:p.Thr8798Lys | |
| XM_006715417.1:c.26378C>A (SYNE1) | XP_006715480.1:p.Thr8793Lys | |
| XM_006715420.1:c.26366C>A (SYNE1) | XP_006715483.1:p.Thr8789Lys | |
| XM_006715421.1:c.26363C>A (SYNE1) | XP_006715484.1:p.Thr8788Lys | |
| XM_006715422.1:c.26360C>A (SYNE1) | XP_006715485.1:p.Thr8787Lys | |
| XM_006715423.1:c.*183C>A (SYNE1) | XP_006715486.1:n.*183C>A | |
| XM_006715424.1:c.*183C>A (SYNE1) | XP_006715487.1:n.*183C>A | |
| XM_006715425.1:c.*183C>A (SYNE1) | XP_006715488.1:n.*183C>A | |
| XM_011535641.1:c.26516C>A (SYNE1) | XP_011533943.1:p.Thr8839Lys | |
| XM_011535642.1:c.26504C>A (SYNE1) | XP_011533944.1:p.Thr8835Lys | |
| XM_011535643.1:c.26354C>A (SYNE1) | XP_011533945.1:p.Thr8785Lys | |
| XM_011535644.1:c.24794C>A (SYNE1) | XP_011533946.1:p.Thr8265Lys | |
| XM_011535645.1:c.24287C>A (SYNE1) | XP_011533947.1:p.Thr8096Lys | |
| XM_011535647.1:c.19754C>A (SYNE1) | XP_011533949.1:p.Thr6585Lys | |
| NM_001328100.1:c.851-2808G>T (ESR1) | NP_001315029.1:n.851-2808G>T | |
| NM_001347701.1:c.*183C>A (SYNE1) | NP_001334630.1:n.*183C>A | |
| NM_001347702.1:c.2906C>A (SYNE1) | NP_001334631.1:p.Thr969Lys | |
| XM_006715408.2:c.26507C>A (SYNE1) | XP_006715471.1:p.Thr8836Lys | |
| XM_006715410.2:c.26477C>A (SYNE1) | XP_006715473.1:p.Thr8826Lys | |
| XM_006715412.2:c.26462C>A (SYNE1) | XP_006715475.1:p.Thr8821Lys | |
| XM_006715413.2:c.26450C>A (SYNE1) | XP_006715476.1:p.Thr8817Lys | |
| XM_006715415.2:c.26408C>A (SYNE1) | XP_006715478.1:p.Thr8803Lys | |
| XM_006715416.2:c.26393C>A (SYNE1) | XP_006715479.1:p.Thr8798Lys | |
| XM_006715417.2:c.26378C>A (SYNE1) | XP_006715480.1:p.Thr8793Lys | |
| XM_006715420.2:c.26366C>A (SYNE1) | XP_006715483.1:p.Thr8789Lys | |
| XM_006715421.2:c.26363C>A (SYNE1) | XP_006715484.1:p.Thr8788Lys | |
| XM_006715423.2:c.*183C>A (SYNE1) | XP_006715486.1:n.*183C>A | |
| XM_006715424.2:c.*183C>A (SYNE1) | XP_006715487.1:n.*183C>A | |
| XM_006715425.2:c.*183C>A (SYNE1) | XP_006715488.1:n.*183C>A | |
| XM_011535641.2:c.26516C>A (SYNE1) | XP_011533943.1:p.Thr8839Lys | |
| XM_011535642.2:c.26504C>A (SYNE1) | XP_011533944.1:p.Thr8835Lys | |
| XM_011535645.2:c.24287C>A (SYNE1) | XP_011533947.1:p.Thr8096Lys | |
| XM_017010608.1:c.26519C>A (SYNE1) | XP_016866097.1:p.Thr8840Lys | |
| XM_017010609.1:c.26519C>A (SYNE1) | XP_016866098.1:p.Thr8840Lys | |
| XM_017010610.1:c.26498C>A (SYNE1) | XP_016866099.1:p.Thr8833Lys | |
| XM_017010611.2:c.26492C>A (SYNE1) | XP_016866100.1:p.Thr8831Lys | |
| XM_017010612.1:c.26441C>A (SYNE1) | XP_016866101.1:p.Thr8814Lys | |
| XM_017010613.1:c.26405C>A (SYNE1) | XP_016866102.1:p.Thr8802Lys | |
| XM_017010614.1:c.26363C>A (SYNE1) | XP_016866103.1:p.Thr8788Lys | |
| XM_017010615.1:c.26252C>A (SYNE1) | XP_016866104.1:p.Thr8751Lys | |
| XM_017010616.1:c.*183C>A (SYNE1) | XP_016866105.1:n.*183C>A | |
| XM_017010617.1:c.*183C>A (SYNE1) | XP_016866106.1:n.*183C>A | |
| XM_017010618.1:c.*183C>A (SYNE1) | XP_016866107.1:n.*183C>A | |
| XM_017010619.1:c.24794C>A (SYNE1) | XP_016866108.1:p.Thr8265Lys | |
| NM_182961.4:c.26372C>A (SYNE1) MANE Select | NP_892006.3:p.Thr8791Lys | |
| NM_001328100.2:c.851-2808G>T (ESR1) | NP_001315029.1:n.851-2808G>T | |
| NM_001347701.2:c.*183C>A (SYNE1) | NP_001334630.1:n.*183C>A | |
| NM_001347702.2:c.2906C>A (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Thr969Lys | |
| NM_033071.5:c.26228C>A (SYNE1) | NP_149062.2:p.Thr8743Lys |