Linked Data
ClinVar Variation Id:
130435
dbSNP Id:
rs2295191
ExAC:
6:152443756 C / T
gnomAD v2:
6-152443756-C-T
gnomAD v3:
6-152122621-C-T
gnomAD v4:
6-152122621-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122621C>T , CM000668.2:g.152122621C>T | GRCh38 |
| NC_000006.11:g.152443756C>T , CM000668.1:g.152443756C>T | GRCh37 |
| NC_000006.10:g.152485449C>T | NCBI36 |
| NG_012855.1:g.519779G>A | |
| NG_008493.2:g.470931C>T | |
| NG_012855.2:g.519779G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2743G>A (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Gly915Ser | |
| ENST00000367255.10:c.26209G>A (SYNE1) MANE Select | ENSP00000356224.5:p.Gly8737Ser | |
| ENST00000423061.6:c.26065G>A (SYNE1) | ENSP00000396024.1:p.Gly8689Ser | |
| ENST00000672154.1:c.1552G>A (SYNE1) | ||
| ENST00000672169.1:c.1927G>A (SYNE1) | ||
| ENST00000673173.1:c.1794G>A (SYNE1) | ||
| ENST00000673451.1:c.2059G>A (SYNE1) | ENSP00000500189.1:n.2059G>A | |
| ENST00000341594.9:c.24994G>A (SYNE1) | ENSP00000341887.6:p.Gly8332Ser | |
| ENST00000347037.9:n.2957G>A (SYNE1) | ||
| ENST00000354674.4:c.2743G>A (SYNE1) | ENSP00000346701.4:p.Gly915Ser | |
| ENST00000367251.7:c.4985G>A (SYNE1) | ENSP00000356220.3:n.4985G>A | |
| ENST00000367255.9:c.26209G>A (SYNE1) | ENSP00000356224.5:p.Gly8737Ser | |
| ENST00000367256.9:n.9901G>A (SYNE1) | ||
| ENST00000367257.8:c.4088G>A (SYNE1) | ENSP00000356226.4:n.4088G>A | |
| ENST00000409694.6:n.9793G>A (SYNE1) | ||
| ENST00000423061.5:c.26065G>A (SYNE1) | ENSP00000396024.1:p.Gly8689Ser | |
| ENST00000427531.6:c.851-2645C>T (ESR1) | ENSP00000394721.2:n.851-2645C>T | |
| ENST00000460912.6:n.2823G>A (SYNE1) | ||
| ENST00000478916.5:n.6846G>A (SYNE1) | ||
| ENST00000536990.5:n.2987G>A (SYNE1) | ||
| ENST00000539504.5:c.2674G>A (SYNE1) | ENSP00000441052.1:p.Gly892Ser | |
| NM_033071.3:c.26065G>A (SYNE1) | NP_149062.1:p.Gly8689Ser | |
| NM_182961.3:c.26209G>A (SYNE1) | NP_892006.3:p.Gly8737Ser | |
| XM_006715407.1:c.26356G>A (SYNE1) | XP_006715470.1:p.Gly8786Ser | |
| XM_006715408.1:c.26344G>A (SYNE1) | XP_006715471.1:p.Gly8782Ser | |
| XM_006715409.1:c.26335G>A (SYNE1) | XP_006715472.1:p.Gly8779Ser | |
| XM_006715410.1:c.26314G>A (SYNE1) | XP_006715473.1:p.Gly8772Ser | |
| XM_006715411.1:c.26305G>A (SYNE1) | XP_006715474.1:p.Gly8769Ser | |
| XM_006715412.1:c.26299G>A (SYNE1) | XP_006715475.1:p.Gly8767Ser | |
| XM_006715413.1:c.26287G>A (SYNE1) | XP_006715476.1:p.Gly8763Ser | |
| XM_006715414.1:c.26284G>A (SYNE1) | XP_006715477.1:p.Gly8762Ser | |
| XM_006715415.1:c.26245G>A (SYNE1) | XP_006715478.1:p.Gly8749Ser | |
| XM_006715416.1:c.26230G>A (SYNE1) | XP_006715479.1:p.Gly8744Ser | |
| XM_006715417.1:c.26215G>A (SYNE1) | XP_006715480.1:p.Gly8739Ser | |
| XM_006715420.1:c.26203G>A (SYNE1) | XP_006715483.1:p.Gly8735Ser | |
| XM_006715421.1:c.26200G>A (SYNE1) | XP_006715484.1:p.Gly8734Ser | |
| XM_006715422.1:c.26197G>A (SYNE1) | XP_006715485.1:p.Gly8733Ser | |
| XM_006715423.1:c.*20G>A (SYNE1) | XP_006715486.1:n.*20G>A | |
| XM_006715424.1:c.*20G>A (SYNE1) | XP_006715487.1:n.*20G>A | |
| XM_006715425.1:c.*20G>A (SYNE1) | XP_006715488.1:n.*20G>A | |
| XM_011535641.1:c.26353G>A (SYNE1) | XP_011533943.1:p.Gly8785Ser | |
| XM_011535642.1:c.26341G>A (SYNE1) | XP_011533944.1:p.Gly8781Ser | |
| XM_011535643.1:c.26191G>A (SYNE1) | XP_011533945.1:p.Gly8731Ser | |
| XM_011535644.1:c.24631G>A (SYNE1) | XP_011533946.1:p.Gly8211Ser | |
| XM_011535645.1:c.24124G>A (SYNE1) | XP_011533947.1:p.Gly8042Ser | |
| XM_011535647.1:c.19591G>A (SYNE1) | XP_011533949.1:p.Gly6531Ser | |
| NM_001328100.1:c.851-2645C>T (ESR1) | NP_001315029.1:n.851-2645C>T | |
| NM_001347701.1:c.*20G>A (SYNE1) | NP_001334630.1:n.*20G>A | |
| NM_001347702.1:c.2743G>A (SYNE1) | NP_001334631.1:p.Gly915Ser | |
| XM_006715408.2:c.26344G>A (SYNE1) | XP_006715471.1:p.Gly8782Ser | |
| XM_006715410.2:c.26314G>A (SYNE1) | XP_006715473.1:p.Gly8772Ser | |
| XM_006715412.2:c.26299G>A (SYNE1) | XP_006715475.1:p.Gly8767Ser | |
| XM_006715413.2:c.26287G>A (SYNE1) | XP_006715476.1:p.Gly8763Ser | |
| XM_006715415.2:c.26245G>A (SYNE1) | XP_006715478.1:p.Gly8749Ser | |
| XM_006715416.2:c.26230G>A (SYNE1) | XP_006715479.1:p.Gly8744Ser | |
| XM_006715417.2:c.26215G>A (SYNE1) | XP_006715480.1:p.Gly8739Ser | |
| XM_006715420.2:c.26203G>A (SYNE1) | XP_006715483.1:p.Gly8735Ser | |
| XM_006715421.2:c.26200G>A (SYNE1) | XP_006715484.1:p.Gly8734Ser | |
| XM_006715423.2:c.*20G>A (SYNE1) | XP_006715486.1:n.*20G>A | |
| XM_006715424.2:c.*20G>A (SYNE1) | XP_006715487.1:n.*20G>A | |
| XM_006715425.2:c.*20G>A (SYNE1) | XP_006715488.1:n.*20G>A | |
| XM_011535641.2:c.26353G>A (SYNE1) | XP_011533943.1:p.Gly8785Ser | |
| XM_011535642.2:c.26341G>A (SYNE1) | XP_011533944.1:p.Gly8781Ser | |
| XM_011535645.2:c.24124G>A (SYNE1) | XP_011533947.1:p.Gly8042Ser | |
| XM_017010608.1:c.26356G>A (SYNE1) | XP_016866097.1:p.Gly8786Ser | |
| XM_017010609.1:c.26356G>A (SYNE1) | XP_016866098.1:p.Gly8786Ser | |
| XM_017010610.1:c.26335G>A (SYNE1) | XP_016866099.1:p.Gly8779Ser | |
| XM_017010611.2:c.26329G>A (SYNE1) | XP_016866100.1:p.Gly8777Ser | |
| XM_017010612.1:c.26278G>A (SYNE1) | XP_016866101.1:p.Gly8760Ser | |
| XM_017010613.1:c.26242G>A (SYNE1) | XP_016866102.1:p.Gly8748Ser | |
| XM_017010614.1:c.26200G>A (SYNE1) | XP_016866103.1:p.Gly8734Ser | |
| XM_017010615.1:c.26089G>A (SYNE1) | XP_016866104.1:p.Gly8697Ser | |
| XM_017010616.1:c.*20G>A (SYNE1) | XP_016866105.1:n.*20G>A | |
| XM_017010617.1:c.*20G>A (SYNE1) | XP_016866106.1:n.*20G>A | |
| XM_017010618.1:c.*20G>A (SYNE1) | XP_016866107.1:n.*20G>A | |
| XM_017010619.1:c.24631G>A (SYNE1) | XP_016866108.1:p.Gly8211Ser | |
| NM_182961.4:c.26209G>A (SYNE1) MANE Select | NP_892006.3:p.Gly8737Ser | |
| NM_001328100.2:c.851-2645C>T (ESR1) | NP_001315029.1:n.851-2645C>T | |
| NM_001347701.2:c.*20G>A (SYNE1) | NP_001334630.1:n.*20G>A | |
| NM_001347702.2:c.2743G>A (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Gly915Ser | |
| NM_033071.5:c.26065G>A (SYNE1) | NP_149062.2:p.Gly8689Ser |