Linked Data
ClinVar Variation Id:
863040
dbSNP Id:
rs747405346
ExAC:
6:152443603 G / A
gnomAD v2:
6-152443603-G-A
gnomAD v3:
6-152122468-G-A
gnomAD v4:
6-152122468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122468G>A , CM000668.2:g.152122468G>A | GRCh38 |
| NC_000006.11:g.152443603G>A , CM000668.1:g.152443603G>A | GRCh37 |
| NC_000006.10:g.152485296G>A | NCBI36 |
| NG_012855.1:g.519932C>T | |
| NG_008493.2:g.470778G>A | |
| NG_012855.2:g.519932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2896C>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Leu966Phe | |
| ENST00000367255.10:c.26362C>T (SYNE1) MANE Select | ENSP00000356224.5:p.Leu8788Phe | |
| ENST00000423061.6:c.26218C>T (SYNE1) | ENSP00000396024.1:p.Leu8740Phe | |
| ENST00000672154.1:c.1705C>T (SYNE1) | ||
| ENST00000672169.1:c.2080C>T (SYNE1) | ||
| ENST00000673173.1:c.1947C>T (SYNE1) | ||
| ENST00000673451.1:c.2212C>T (SYNE1) | ENSP00000500189.1:n.2212C>T | |
| ENST00000341594.9:c.25147C>T (SYNE1) | ENSP00000341887.6:p.Leu8383Phe | |
| ENST00000347037.9:n.3110C>T (SYNE1) | ||
| ENST00000354674.4:c.2896C>T (SYNE1) | ENSP00000346701.4:p.Leu966Phe | |
| ENST00000367251.7:c.5138C>T (SYNE1) | ENSP00000356220.3:n.5138C>T | |
| ENST00000367255.9:c.26362C>T (SYNE1) | ENSP00000356224.5:p.Leu8788Phe | |
| ENST00000367256.9:n.10054C>T (SYNE1) | ||
| ENST00000367257.8:c.4241C>T (SYNE1) | ENSP00000356226.4:n.4241C>T | |
| ENST00000409694.6:n.9946C>T (SYNE1) | ||
| ENST00000423061.5:c.26218C>T (SYNE1) | ENSP00000396024.1:p.Leu8740Phe | |
| ENST00000427531.6:c.851-2798G>A (ESR1) | ENSP00000394721.2:n.851-2798G>A | |
| ENST00000460912.6:n.2976C>T (SYNE1) | ||
| ENST00000478916.5:n.6999C>T (SYNE1) | ||
| ENST00000539504.5:c.2827C>T (SYNE1) | ENSP00000441052.1:p.Leu943Phe | |
| NM_033071.3:c.26218C>T (SYNE1) | NP_149062.1:p.Leu8740Phe | |
| NM_182961.3:c.26362C>T (SYNE1) | NP_892006.3:p.Leu8788Phe | |
| XM_006715407.1:c.26509C>T (SYNE1) | XP_006715470.1:p.Leu8837Phe | |
| XM_006715408.1:c.26497C>T (SYNE1) | XP_006715471.1:p.Leu8833Phe | |
| XM_006715409.1:c.26488C>T (SYNE1) | XP_006715472.1:p.Leu8830Phe | |
| XM_006715410.1:c.26467C>T (SYNE1) | XP_006715473.1:p.Leu8823Phe | |
| XM_006715411.1:c.26458C>T (SYNE1) | XP_006715474.1:p.Leu8820Phe | |
| XM_006715412.1:c.26452C>T (SYNE1) | XP_006715475.1:p.Leu8818Phe | |
| XM_006715413.1:c.26440C>T (SYNE1) | XP_006715476.1:p.Leu8814Phe | |
| XM_006715414.1:c.26437C>T (SYNE1) | XP_006715477.1:p.Leu8813Phe | |
| XM_006715415.1:c.26398C>T (SYNE1) | XP_006715478.1:p.Leu8800Phe | |
| XM_006715416.1:c.26383C>T (SYNE1) | XP_006715479.1:p.Leu8795Phe | |
| XM_006715417.1:c.26368C>T (SYNE1) | XP_006715480.1:p.Leu8790Phe | |
| XM_006715420.1:c.26356C>T (SYNE1) | XP_006715483.1:p.Leu8786Phe | |
| XM_006715421.1:c.26353C>T (SYNE1) | XP_006715484.1:p.Leu8785Phe | |
| XM_006715422.1:c.26350C>T (SYNE1) | XP_006715485.1:p.Leu8784Phe | |
| XM_006715423.1:c.*173C>T (SYNE1) | XP_006715486.1:n.*173C>T | |
| XM_006715424.1:c.*173C>T (SYNE1) | XP_006715487.1:n.*173C>T | |
| XM_006715425.1:c.*173C>T (SYNE1) | XP_006715488.1:n.*173C>T | |
| XM_011535641.1:c.26506C>T (SYNE1) | XP_011533943.1:p.Leu8836Phe | |
| XM_011535642.1:c.26494C>T (SYNE1) | XP_011533944.1:p.Leu8832Phe | |
| XM_011535643.1:c.26344C>T (SYNE1) | XP_011533945.1:p.Leu8782Phe | |
| XM_011535644.1:c.24784C>T (SYNE1) | XP_011533946.1:p.Leu8262Phe | |
| XM_011535645.1:c.24277C>T (SYNE1) | XP_011533947.1:p.Leu8093Phe | |
| XM_011535647.1:c.19744C>T (SYNE1) | XP_011533949.1:p.Leu6582Phe | |
| NM_001328100.1:c.851-2798G>A (ESR1) | NP_001315029.1:n.851-2798G>A | |
| NM_001347701.1:c.*173C>T (SYNE1) | NP_001334630.1:n.*173C>T | |
| NM_001347702.1:c.2896C>T (SYNE1) | NP_001334631.1:p.Leu966Phe | |
| XM_006715408.2:c.26497C>T (SYNE1) | XP_006715471.1:p.Leu8833Phe | |
| XM_006715410.2:c.26467C>T (SYNE1) | XP_006715473.1:p.Leu8823Phe | |
| XM_006715412.2:c.26452C>T (SYNE1) | XP_006715475.1:p.Leu8818Phe | |
| XM_006715413.2:c.26440C>T (SYNE1) | XP_006715476.1:p.Leu8814Phe | |
| XM_006715415.2:c.26398C>T (SYNE1) | XP_006715478.1:p.Leu8800Phe | |
| XM_006715416.2:c.26383C>T (SYNE1) | XP_006715479.1:p.Leu8795Phe | |
| XM_006715417.2:c.26368C>T (SYNE1) | XP_006715480.1:p.Leu8790Phe | |
| XM_006715420.2:c.26356C>T (SYNE1) | XP_006715483.1:p.Leu8786Phe | |
| XM_006715421.2:c.26353C>T (SYNE1) | XP_006715484.1:p.Leu8785Phe | |
| XM_006715423.2:c.*173C>T (SYNE1) | XP_006715486.1:n.*173C>T | |
| XM_006715424.2:c.*173C>T (SYNE1) | XP_006715487.1:n.*173C>T | |
| XM_006715425.2:c.*173C>T (SYNE1) | XP_006715488.1:n.*173C>T | |
| XM_011535641.2:c.26506C>T (SYNE1) | XP_011533943.1:p.Leu8836Phe | |
| XM_011535642.2:c.26494C>T (SYNE1) | XP_011533944.1:p.Leu8832Phe | |
| XM_011535645.2:c.24277C>T (SYNE1) | XP_011533947.1:p.Leu8093Phe | |
| XM_017010608.1:c.26509C>T (SYNE1) | XP_016866097.1:p.Leu8837Phe | |
| XM_017010609.1:c.26509C>T (SYNE1) | XP_016866098.1:p.Leu8837Phe | |
| XM_017010610.1:c.26488C>T (SYNE1) | XP_016866099.1:p.Leu8830Phe | |
| XM_017010611.2:c.26482C>T (SYNE1) | XP_016866100.1:p.Leu8828Phe | |
| XM_017010612.1:c.26431C>T (SYNE1) | XP_016866101.1:p.Leu8811Phe | |
| XM_017010613.1:c.26395C>T (SYNE1) | XP_016866102.1:p.Leu8799Phe | |
| XM_017010614.1:c.26353C>T (SYNE1) | XP_016866103.1:p.Leu8785Phe | |
| XM_017010615.1:c.26242C>T (SYNE1) | XP_016866104.1:p.Leu8748Phe | |
| XM_017010616.1:c.*173C>T (SYNE1) | XP_016866105.1:n.*173C>T | |
| XM_017010617.1:c.*173C>T (SYNE1) | XP_016866106.1:n.*173C>T | |
| XM_017010618.1:c.*173C>T (SYNE1) | XP_016866107.1:n.*173C>T | |
| XM_017010619.1:c.24784C>T (SYNE1) | XP_016866108.1:p.Leu8262Phe | |
| NM_182961.4:c.26362C>T (SYNE1) MANE Select | NP_892006.3:p.Leu8788Phe | |
| NM_001328100.2:c.851-2798G>A (ESR1) | NP_001315029.1:n.851-2798G>A | |
| NM_001347701.2:c.*173C>T (SYNE1) | NP_001334630.1:n.*173C>T | |
| NM_001347702.2:c.2896C>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Leu966Phe | |
| NM_033071.5:c.26218C>T (SYNE1) | NP_149062.2:p.Leu8740Phe |