Linked Data
dbSNP Id:
rs781506408
ExAC:
6:152443617 G / A
gnomAD v2:
6-152443617-G-A
gnomAD v4:
6-152122482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122482G>A , CM000668.2:g.152122482G>A | GRCh38 |
| NC_000006.11:g.152443617G>A , CM000668.1:g.152443617G>A | GRCh37 |
| NC_000006.10:g.152485310G>A | NCBI36 |
| NG_012855.1:g.519918C>T | |
| NG_008493.2:g.470792G>A | |
| NG_012855.2:g.519918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2882C>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Ser961Leu | |
| ENST00000367255.10:c.26348C>T (SYNE1) MANE Select | ENSP00000356224.5:p.Ser8783Leu | |
| ENST00000423061.6:c.26204C>T (SYNE1) | ENSP00000396024.1:p.Ser8735Leu | |
| ENST00000672154.1:c.1691C>T (SYNE1) | ||
| ENST00000672169.1:c.2066C>T (SYNE1) | ||
| ENST00000673173.1:c.1933C>T (SYNE1) | ||
| ENST00000673451.1:c.2198C>T (SYNE1) | ENSP00000500189.1:n.2198C>T | |
| ENST00000341594.9:c.25133C>T (SYNE1) | ENSP00000341887.6:p.Ser8378Leu | |
| ENST00000347037.9:n.3096C>T (SYNE1) | ||
| ENST00000354674.4:c.2882C>T (SYNE1) | ENSP00000346701.4:p.Ser961Leu | |
| ENST00000367251.7:c.5124C>T (SYNE1) | ENSP00000356220.3:n.5124C>T | |
| ENST00000367255.9:c.26348C>T (SYNE1) | ENSP00000356224.5:p.Ser8783Leu | |
| ENST00000367256.9:n.10040C>T (SYNE1) | ||
| ENST00000367257.8:c.4227C>T (SYNE1) | ENSP00000356226.4:n.4227C>T | |
| ENST00000409694.6:n.9932C>T (SYNE1) | ||
| ENST00000423061.5:c.26204C>T (SYNE1) | ENSP00000396024.1:p.Ser8735Leu | |
| ENST00000427531.6:c.851-2784G>A (ESR1) | ENSP00000394721.2:n.851-2784G>A | |
| ENST00000460912.6:n.2962C>T (SYNE1) | ||
| ENST00000478916.5:n.6985C>T (SYNE1) | ||
| ENST00000539504.5:c.2813C>T (SYNE1) | ENSP00000441052.1:p.Ser938Leu | |
| NM_033071.3:c.26204C>T (SYNE1) | NP_149062.1:p.Ser8735Leu | |
| NM_182961.3:c.26348C>T (SYNE1) | NP_892006.3:p.Ser8783Leu | |
| XM_006715407.1:c.26495C>T (SYNE1) | XP_006715470.1:p.Ser8832Leu | |
| XM_006715408.1:c.26483C>T (SYNE1) | XP_006715471.1:p.Ser8828Leu | |
| XM_006715409.1:c.26474C>T (SYNE1) | XP_006715472.1:p.Ser8825Leu | |
| XM_006715410.1:c.26453C>T (SYNE1) | XP_006715473.1:p.Ser8818Leu | |
| XM_006715411.1:c.26444C>T (SYNE1) | XP_006715474.1:p.Ser8815Leu | |
| XM_006715412.1:c.26438C>T (SYNE1) | XP_006715475.1:p.Ser8813Leu | |
| XM_006715413.1:c.26426C>T (SYNE1) | XP_006715476.1:p.Ser8809Leu | |
| XM_006715414.1:c.26423C>T (SYNE1) | XP_006715477.1:p.Ser8808Leu | |
| XM_006715415.1:c.26384C>T (SYNE1) | XP_006715478.1:p.Ser8795Leu | |
| XM_006715416.1:c.26369C>T (SYNE1) | XP_006715479.1:p.Ser8790Leu | |
| XM_006715417.1:c.26354C>T (SYNE1) | XP_006715480.1:p.Ser8785Leu | |
| XM_006715420.1:c.26342C>T (SYNE1) | XP_006715483.1:p.Ser8781Leu | |
| XM_006715421.1:c.26339C>T (SYNE1) | XP_006715484.1:p.Ser8780Leu | |
| XM_006715422.1:c.26336C>T (SYNE1) | XP_006715485.1:p.Ser8779Leu | |
| XM_006715423.1:c.*159C>T (SYNE1) | XP_006715486.1:n.*159C>T | |
| XM_006715424.1:c.*159C>T (SYNE1) | XP_006715487.1:n.*159C>T | |
| XM_006715425.1:c.*159C>T (SYNE1) | XP_006715488.1:n.*159C>T | |
| XM_011535641.1:c.26492C>T (SYNE1) | XP_011533943.1:p.Ser8831Leu | |
| XM_011535642.1:c.26480C>T (SYNE1) | XP_011533944.1:p.Ser8827Leu | |
| XM_011535643.1:c.26330C>T (SYNE1) | XP_011533945.1:p.Ser8777Leu | |
| XM_011535644.1:c.24770C>T (SYNE1) | XP_011533946.1:p.Ser8257Leu | |
| XM_011535645.1:c.24263C>T (SYNE1) | XP_011533947.1:p.Ser8088Leu | |
| XM_011535647.1:c.19730C>T (SYNE1) | XP_011533949.1:p.Ser6577Leu | |
| NM_001328100.1:c.851-2784G>A (ESR1) | NP_001315029.1:n.851-2784G>A | |
| NM_001347701.1:c.*159C>T (SYNE1) | NP_001334630.1:n.*159C>T | |
| NM_001347702.1:c.2882C>T (SYNE1) | NP_001334631.1:p.Ser961Leu | |
| XM_006715408.2:c.26483C>T (SYNE1) | XP_006715471.1:p.Ser8828Leu | |
| XM_006715410.2:c.26453C>T (SYNE1) | XP_006715473.1:p.Ser8818Leu | |
| XM_006715412.2:c.26438C>T (SYNE1) | XP_006715475.1:p.Ser8813Leu | |
| XM_006715413.2:c.26426C>T (SYNE1) | XP_006715476.1:p.Ser8809Leu | |
| XM_006715415.2:c.26384C>T (SYNE1) | XP_006715478.1:p.Ser8795Leu | |
| XM_006715416.2:c.26369C>T (SYNE1) | XP_006715479.1:p.Ser8790Leu | |
| XM_006715417.2:c.26354C>T (SYNE1) | XP_006715480.1:p.Ser8785Leu | |
| XM_006715420.2:c.26342C>T (SYNE1) | XP_006715483.1:p.Ser8781Leu | |
| XM_006715421.2:c.26339C>T (SYNE1) | XP_006715484.1:p.Ser8780Leu | |
| XM_006715423.2:c.*159C>T (SYNE1) | XP_006715486.1:n.*159C>T | |
| XM_006715424.2:c.*159C>T (SYNE1) | XP_006715487.1:n.*159C>T | |
| XM_006715425.2:c.*159C>T (SYNE1) | XP_006715488.1:n.*159C>T | |
| XM_011535641.2:c.26492C>T (SYNE1) | XP_011533943.1:p.Ser8831Leu | |
| XM_011535642.2:c.26480C>T (SYNE1) | XP_011533944.1:p.Ser8827Leu | |
| XM_011535645.2:c.24263C>T (SYNE1) | XP_011533947.1:p.Ser8088Leu | |
| XM_017010608.1:c.26495C>T (SYNE1) | XP_016866097.1:p.Ser8832Leu | |
| XM_017010609.1:c.26495C>T (SYNE1) | XP_016866098.1:p.Ser8832Leu | |
| XM_017010610.1:c.26474C>T (SYNE1) | XP_016866099.1:p.Ser8825Leu | |
| XM_017010611.2:c.26468C>T (SYNE1) | XP_016866100.1:p.Ser8823Leu | |
| XM_017010612.1:c.26417C>T (SYNE1) | XP_016866101.1:p.Ser8806Leu | |
| XM_017010613.1:c.26381C>T (SYNE1) | XP_016866102.1:p.Ser8794Leu | |
| XM_017010614.1:c.26339C>T (SYNE1) | XP_016866103.1:p.Ser8780Leu | |
| XM_017010615.1:c.26228C>T (SYNE1) | XP_016866104.1:p.Ser8743Leu | |
| XM_017010616.1:c.*159C>T (SYNE1) | XP_016866105.1:n.*159C>T | |
| XM_017010617.1:c.*159C>T (SYNE1) | XP_016866106.1:n.*159C>T | |
| XM_017010618.1:c.*159C>T (SYNE1) | XP_016866107.1:n.*159C>T | |
| XM_017010619.1:c.24770C>T (SYNE1) | XP_016866108.1:p.Ser8257Leu | |
| NM_182961.4:c.26348C>T (SYNE1) MANE Select | NP_892006.3:p.Ser8783Leu | |
| NM_001328100.2:c.851-2784G>A (ESR1) | NP_001315029.1:n.851-2784G>A | |
| NM_001347701.2:c.*159C>T (SYNE1) | NP_001334630.1:n.*159C>T | |
| NM_001347702.2:c.2882C>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Ser961Leu | |
| NM_033071.5:c.26204C>T (SYNE1) | NP_149062.2:p.Ser8735Leu |