Linked Data
dbSNP Id:
rs753871708
ExAC:
6:152443588 C / A
gnomAD v2:
6-152443588-C-A
gnomAD v4:
6-152122453-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122453C>A , CM000668.2:g.152122453C>A | GRCh38 |
| NC_000006.11:g.152443588C>A , CM000668.1:g.152443588C>A | GRCh37 |
| NC_000006.10:g.152485281C>A | NCBI36 |
| NG_012855.1:g.519947G>T | |
| NG_008493.2:g.470763C>A | |
| NG_012855.2:g.519947G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2911G>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Gly971Cys | |
| ENST00000367255.10:c.26377G>T (SYNE1) MANE Select | ENSP00000356224.5:p.Gly8793Cys | |
| ENST00000423061.6:c.26233G>T (SYNE1) | ENSP00000396024.1:p.Gly8745Cys | |
| ENST00000672154.1:c.1720G>T (SYNE1) | ||
| ENST00000672169.1:c.2095G>T (SYNE1) | ||
| ENST00000673173.1:c.1962G>T (SYNE1) | ||
| ENST00000673451.1:c.2227G>T (SYNE1) | ENSP00000500189.1:n.2227G>T | |
| ENST00000341594.9:c.25162G>T (SYNE1) | ENSP00000341887.6:p.Gly8388Cys | |
| ENST00000347037.9:n.3125G>T (SYNE1) | ||
| ENST00000354674.4:c.2911G>T (SYNE1) | ENSP00000346701.4:p.Gly971Cys | |
| ENST00000367251.7:c.5153G>T (SYNE1) | ENSP00000356220.3:n.5153G>T | |
| ENST00000367255.9:c.26377G>T (SYNE1) | ENSP00000356224.5:p.Gly8793Cys | |
| ENST00000367256.9:n.10069G>T (SYNE1) | ||
| ENST00000367257.8:c.4256G>T (SYNE1) | ENSP00000356226.4:n.4256G>T | |
| ENST00000409694.6:n.9961G>T (SYNE1) | ||
| ENST00000423061.5:c.26233G>T (SYNE1) | ENSP00000396024.1:p.Gly8745Cys | |
| ENST00000427531.6:c.851-2813C>A (ESR1) | ENSP00000394721.2:n.851-2813C>A | |
| ENST00000460912.6:n.2991G>T (SYNE1) | ||
| ENST00000478916.5:n.7014G>T (SYNE1) | ||
| ENST00000539504.5:c.2842G>T (SYNE1) | ENSP00000441052.1:p.Gly948Cys | |
| NM_033071.3:c.26233G>T (SYNE1) | NP_149062.1:p.Gly8745Cys | |
| NM_182961.3:c.26377G>T (SYNE1) | NP_892006.3:p.Gly8793Cys | |
| XM_006715407.1:c.26524G>T (SYNE1) | XP_006715470.1:p.Gly8842Cys | |
| XM_006715408.1:c.26512G>T (SYNE1) | XP_006715471.1:p.Gly8838Cys | |
| XM_006715409.1:c.26503G>T (SYNE1) | XP_006715472.1:p.Gly8835Cys | |
| XM_006715410.1:c.26482G>T (SYNE1) | XP_006715473.1:p.Gly8828Cys | |
| XM_006715411.1:c.26473G>T (SYNE1) | XP_006715474.1:p.Gly8825Cys | |
| XM_006715412.1:c.26467G>T (SYNE1) | XP_006715475.1:p.Gly8823Cys | |
| XM_006715413.1:c.26455G>T (SYNE1) | XP_006715476.1:p.Gly8819Cys | |
| XM_006715414.1:c.26452G>T (SYNE1) | XP_006715477.1:p.Gly8818Cys | |
| XM_006715415.1:c.26413G>T (SYNE1) | XP_006715478.1:p.Gly8805Cys | |
| XM_006715416.1:c.26398G>T (SYNE1) | XP_006715479.1:p.Gly8800Cys | |
| XM_006715417.1:c.26383G>T (SYNE1) | XP_006715480.1:p.Gly8795Cys | |
| XM_006715420.1:c.26371G>T (SYNE1) | XP_006715483.1:p.Gly8791Cys | |
| XM_006715421.1:c.26368G>T (SYNE1) | XP_006715484.1:p.Gly8790Cys | |
| XM_006715422.1:c.26365G>T (SYNE1) | XP_006715485.1:p.Gly8789Cys | |
| XM_006715423.1:c.*188G>T (SYNE1) | XP_006715486.1:n.*188G>T | |
| XM_006715424.1:c.*188G>T (SYNE1) | XP_006715487.1:n.*188G>T | |
| XM_006715425.1:c.*188G>T (SYNE1) | XP_006715488.1:n.*188G>T | |
| XM_011535641.1:c.26521G>T (SYNE1) | XP_011533943.1:p.Gly8841Cys | |
| XM_011535642.1:c.26509G>T (SYNE1) | XP_011533944.1:p.Gly8837Cys | |
| XM_011535643.1:c.26359G>T (SYNE1) | XP_011533945.1:p.Gly8787Cys | |
| XM_011535644.1:c.24799G>T (SYNE1) | XP_011533946.1:p.Gly8267Cys | |
| XM_011535645.1:c.24292G>T (SYNE1) | XP_011533947.1:p.Gly8098Cys | |
| XM_011535647.1:c.19759G>T (SYNE1) | XP_011533949.1:p.Gly6587Cys | |
| NM_001328100.1:c.851-2813C>A (ESR1) | NP_001315029.1:n.851-2813C>A | |
| NM_001347701.1:c.*188G>T (SYNE1) | NP_001334630.1:n.*188G>T | |
| NM_001347702.1:c.2911G>T (SYNE1) | NP_001334631.1:p.Gly971Cys | |
| XM_006715408.2:c.26512G>T (SYNE1) | XP_006715471.1:p.Gly8838Cys | |
| XM_006715410.2:c.26482G>T (SYNE1) | XP_006715473.1:p.Gly8828Cys | |
| XM_006715412.2:c.26467G>T (SYNE1) | XP_006715475.1:p.Gly8823Cys | |
| XM_006715413.2:c.26455G>T (SYNE1) | XP_006715476.1:p.Gly8819Cys | |
| XM_006715415.2:c.26413G>T (SYNE1) | XP_006715478.1:p.Gly8805Cys | |
| XM_006715416.2:c.26398G>T (SYNE1) | XP_006715479.1:p.Gly8800Cys | |
| XM_006715417.2:c.26383G>T (SYNE1) | XP_006715480.1:p.Gly8795Cys | |
| XM_006715420.2:c.26371G>T (SYNE1) | XP_006715483.1:p.Gly8791Cys | |
| XM_006715421.2:c.26368G>T (SYNE1) | XP_006715484.1:p.Gly8790Cys | |
| XM_006715423.2:c.*188G>T (SYNE1) | XP_006715486.1:n.*188G>T | |
| XM_006715424.2:c.*188G>T (SYNE1) | XP_006715487.1:n.*188G>T | |
| XM_006715425.2:c.*188G>T (SYNE1) | XP_006715488.1:n.*188G>T | |
| XM_011535641.2:c.26521G>T (SYNE1) | XP_011533943.1:p.Gly8841Cys | |
| XM_011535642.2:c.26509G>T (SYNE1) | XP_011533944.1:p.Gly8837Cys | |
| XM_011535645.2:c.24292G>T (SYNE1) | XP_011533947.1:p.Gly8098Cys | |
| XM_017010608.1:c.26524G>T (SYNE1) | XP_016866097.1:p.Gly8842Cys | |
| XM_017010609.1:c.26524G>T (SYNE1) | XP_016866098.1:p.Gly8842Cys | |
| XM_017010610.1:c.26503G>T (SYNE1) | XP_016866099.1:p.Gly8835Cys | |
| XM_017010611.2:c.26497G>T (SYNE1) | XP_016866100.1:p.Gly8833Cys | |
| XM_017010612.1:c.26446G>T (SYNE1) | XP_016866101.1:p.Gly8816Cys | |
| XM_017010613.1:c.26410G>T (SYNE1) | XP_016866102.1:p.Gly8804Cys | |
| XM_017010614.1:c.26368G>T (SYNE1) | XP_016866103.1:p.Gly8790Cys | |
| XM_017010615.1:c.26257G>T (SYNE1) | XP_016866104.1:p.Gly8753Cys | |
| XM_017010616.1:c.*188G>T (SYNE1) | XP_016866105.1:n.*188G>T | |
| XM_017010617.1:c.*188G>T (SYNE1) | XP_016866106.1:n.*188G>T | |
| XM_017010618.1:c.*188G>T (SYNE1) | XP_016866107.1:n.*188G>T | |
| XM_017010619.1:c.24799G>T (SYNE1) | XP_016866108.1:p.Gly8267Cys | |
| NM_182961.4:c.26377G>T (SYNE1) MANE Select | NP_892006.3:p.Gly8793Cys | |
| NM_001328100.2:c.851-2813C>A (ESR1) | NP_001315029.1:n.851-2813C>A | |
| NM_001347701.2:c.*188G>T (SYNE1) | NP_001334630.1:n.*188G>T | |
| NM_001347702.2:c.2911G>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Gly971Cys | |
| NM_033071.5:c.26233G>T (SYNE1) | NP_149062.2:p.Gly8745Cys |