Linked Data
ClinVar Variation Id:
1471881
dbSNP Id:
rs772814249
ExAC:
6:152443755 C / A
gnomAD v2:
6-152443755-C-A
gnomAD v4:
6-152122620-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122620C>A , CM000668.2:g.152122620C>A | GRCh38 |
| NC_000006.11:g.152443755C>A , CM000668.1:g.152443755C>A | GRCh37 |
| NC_000006.10:g.152485448C>A | NCBI36 |
| NG_012855.1:g.519780G>T | |
| NG_008493.2:g.470930C>A | |
| NG_012855.2:g.519780G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2744G>T (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Gly915Val | |
| ENST00000367255.10:c.26210G>T (SYNE1) MANE Select | ENSP00000356224.5:p.Gly8737Val | |
| ENST00000423061.6:c.26066G>T (SYNE1) | ENSP00000396024.1:p.Gly8689Val | |
| ENST00000672154.1:c.1553G>T (SYNE1) | ||
| ENST00000672169.1:c.1928G>T (SYNE1) | ||
| ENST00000673173.1:c.1795G>T (SYNE1) | ||
| ENST00000673451.1:c.2060G>T (SYNE1) | ENSP00000500189.1:n.2060G>T | |
| ENST00000341594.9:c.24995G>T (SYNE1) | ENSP00000341887.6:p.Gly8332Val | |
| ENST00000347037.9:n.2958G>T (SYNE1) | ||
| ENST00000354674.4:c.2744G>T (SYNE1) | ENSP00000346701.4:p.Gly915Val | |
| ENST00000367251.7:c.4986G>T (SYNE1) | ENSP00000356220.3:n.4986G>T | |
| ENST00000367255.9:c.26210G>T (SYNE1) | ENSP00000356224.5:p.Gly8737Val | |
| ENST00000367256.9:n.9902G>T (SYNE1) | ||
| ENST00000367257.8:c.4089G>T (SYNE1) | ENSP00000356226.4:n.4089G>T | |
| ENST00000409694.6:n.9794G>T (SYNE1) | ||
| ENST00000423061.5:c.26066G>T (SYNE1) | ENSP00000396024.1:p.Gly8689Val | |
| ENST00000427531.6:c.851-2646C>A (ESR1) | ENSP00000394721.2:n.851-2646C>A | |
| ENST00000460912.6:n.2824G>T (SYNE1) | ||
| ENST00000478916.5:n.6847G>T (SYNE1) | ||
| ENST00000536990.5:n.2988G>T (SYNE1) | ||
| ENST00000539504.5:c.2675G>T (SYNE1) | ENSP00000441052.1:p.Gly892Val | |
| NM_033071.3:c.26066G>T (SYNE1) | NP_149062.1:p.Gly8689Val | |
| NM_182961.3:c.26210G>T (SYNE1) | NP_892006.3:p.Gly8737Val | |
| XM_006715407.1:c.26357G>T (SYNE1) | XP_006715470.1:p.Gly8786Val | |
| XM_006715408.1:c.26345G>T (SYNE1) | XP_006715471.1:p.Gly8782Val | |
| XM_006715409.1:c.26336G>T (SYNE1) | XP_006715472.1:p.Gly8779Val | |
| XM_006715410.1:c.26315G>T (SYNE1) | XP_006715473.1:p.Gly8772Val | |
| XM_006715411.1:c.26306G>T (SYNE1) | XP_006715474.1:p.Gly8769Val | |
| XM_006715412.1:c.26300G>T (SYNE1) | XP_006715475.1:p.Gly8767Val | |
| XM_006715413.1:c.26288G>T (SYNE1) | XP_006715476.1:p.Gly8763Val | |
| XM_006715414.1:c.26285G>T (SYNE1) | XP_006715477.1:p.Gly8762Val | |
| XM_006715415.1:c.26246G>T (SYNE1) | XP_006715478.1:p.Gly8749Val | |
| XM_006715416.1:c.26231G>T (SYNE1) | XP_006715479.1:p.Gly8744Val | |
| XM_006715417.1:c.26216G>T (SYNE1) | XP_006715480.1:p.Gly8739Val | |
| XM_006715420.1:c.26204G>T (SYNE1) | XP_006715483.1:p.Gly8735Val | |
| XM_006715421.1:c.26201G>T (SYNE1) | XP_006715484.1:p.Gly8734Val | |
| XM_006715422.1:c.26198G>T (SYNE1) | XP_006715485.1:p.Gly8733Val | |
| XM_006715423.1:c.*21G>T (SYNE1) | XP_006715486.1:n.*21G>T | |
| XM_006715424.1:c.*21G>T (SYNE1) | XP_006715487.1:n.*21G>T | |
| XM_006715425.1:c.*21G>T (SYNE1) | XP_006715488.1:n.*21G>T | |
| XM_011535641.1:c.26354G>T (SYNE1) | XP_011533943.1:p.Gly8785Val | |
| XM_011535642.1:c.26342G>T (SYNE1) | XP_011533944.1:p.Gly8781Val | |
| XM_011535643.1:c.26192G>T (SYNE1) | XP_011533945.1:p.Gly8731Val | |
| XM_011535644.1:c.24632G>T (SYNE1) | XP_011533946.1:p.Gly8211Val | |
| XM_011535645.1:c.24125G>T (SYNE1) | XP_011533947.1:p.Gly8042Val | |
| XM_011535647.1:c.19592G>T (SYNE1) | XP_011533949.1:p.Gly6531Val | |
| NM_001328100.1:c.851-2646C>A (ESR1) | NP_001315029.1:n.851-2646C>A | |
| NM_001347701.1:c.*21G>T (SYNE1) | NP_001334630.1:n.*21G>T | |
| NM_001347702.1:c.2744G>T (SYNE1) | NP_001334631.1:p.Gly915Val | |
| XM_006715408.2:c.26345G>T (SYNE1) | XP_006715471.1:p.Gly8782Val | |
| XM_006715410.2:c.26315G>T (SYNE1) | XP_006715473.1:p.Gly8772Val | |
| XM_006715412.2:c.26300G>T (SYNE1) | XP_006715475.1:p.Gly8767Val | |
| XM_006715413.2:c.26288G>T (SYNE1) | XP_006715476.1:p.Gly8763Val | |
| XM_006715415.2:c.26246G>T (SYNE1) | XP_006715478.1:p.Gly8749Val | |
| XM_006715416.2:c.26231G>T (SYNE1) | XP_006715479.1:p.Gly8744Val | |
| XM_006715417.2:c.26216G>T (SYNE1) | XP_006715480.1:p.Gly8739Val | |
| XM_006715420.2:c.26204G>T (SYNE1) | XP_006715483.1:p.Gly8735Val | |
| XM_006715421.2:c.26201G>T (SYNE1) | XP_006715484.1:p.Gly8734Val | |
| XM_006715423.2:c.*21G>T (SYNE1) | XP_006715486.1:n.*21G>T | |
| XM_006715424.2:c.*21G>T (SYNE1) | XP_006715487.1:n.*21G>T | |
| XM_006715425.2:c.*21G>T (SYNE1) | XP_006715488.1:n.*21G>T | |
| XM_011535641.2:c.26354G>T (SYNE1) | XP_011533943.1:p.Gly8785Val | |
| XM_011535642.2:c.26342G>T (SYNE1) | XP_011533944.1:p.Gly8781Val | |
| XM_011535645.2:c.24125G>T (SYNE1) | XP_011533947.1:p.Gly8042Val | |
| XM_017010608.1:c.26357G>T (SYNE1) | XP_016866097.1:p.Gly8786Val | |
| XM_017010609.1:c.26357G>T (SYNE1) | XP_016866098.1:p.Gly8786Val | |
| XM_017010610.1:c.26336G>T (SYNE1) | XP_016866099.1:p.Gly8779Val | |
| XM_017010611.2:c.26330G>T (SYNE1) | XP_016866100.1:p.Gly8777Val | |
| XM_017010612.1:c.26279G>T (SYNE1) | XP_016866101.1:p.Gly8760Val | |
| XM_017010613.1:c.26243G>T (SYNE1) | XP_016866102.1:p.Gly8748Val | |
| XM_017010614.1:c.26201G>T (SYNE1) | XP_016866103.1:p.Gly8734Val | |
| XM_017010615.1:c.26090G>T (SYNE1) | XP_016866104.1:p.Gly8697Val | |
| XM_017010616.1:c.*21G>T (SYNE1) | XP_016866105.1:n.*21G>T | |
| XM_017010617.1:c.*21G>T (SYNE1) | XP_016866106.1:n.*21G>T | |
| XM_017010618.1:c.*21G>T (SYNE1) | XP_016866107.1:n.*21G>T | |
| XM_017010619.1:c.24632G>T (SYNE1) | XP_016866108.1:p.Gly8211Val | |
| NM_182961.4:c.26210G>T (SYNE1) MANE Select | NP_892006.3:p.Gly8737Val | |
| NM_001328100.2:c.851-2646C>A (ESR1) | NP_001315029.1:n.851-2646C>A | |
| NM_001347701.2:c.*21G>T (SYNE1) | NP_001334630.1:n.*21G>T | |
| NM_001347702.2:c.2744G>T (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Gly915Val | |
| NM_033071.5:c.26066G>T (SYNE1) | NP_149062.2:p.Gly8689Val |