Linked Data
ClinVar Variation Id:
2327
dbSNP Id:
rs119103243
ExAC:
6:152702455 T / A
gnomAD v2:
6-152702455-T-A
gnomAD v3:
6-152381320-T-A
gnomAD v4:
6-152381320-T-A
PubMed:
PMID:17159980
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152381320T>A , CM000668.2:g.152381320T>A | GRCh38 |
| NC_000006.11:g.152702455T>A , CM000668.1:g.152702455T>A | GRCh37 |
| NC_000006.10:g.152744148T>A | NCBI36 |
| NG_012855.1:g.261080A>T | |
| NG_012855.2:g.261080A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454018.7:c.46A>T (SYNE1) | ENSP00000390858.4:p.Arg16Ter | |
| ENST00000367255.10:c.8695A>T (SYNE1) MANE Select | ENSP00000356224.5:p.Arg2899Ter | |
| ENST00000423061.6:c.8716A>T (SYNE1) | ENSP00000396024.1:p.Arg2906Ter | |
| ENST00000341594.9:c.8761A>T (SYNE1) | ENSP00000341887.6:p.Arg2921Ter | |
| ENST00000367255.9:c.8695A>T (SYNE1) | ENSP00000356224.5:p.Arg2899Ter | |
| ENST00000423061.5:c.8716A>T (SYNE1) | ENSP00000396024.1:p.Arg2906Ter | |
| ENST00000454018.6:c.43A>T (SYNE1) | ENSP00000390858.3:p.Arg15Ter | |
| ENST00000461872.6:n.8913A>T (SYNE1) | ||
| NM_033071.3:c.8716A>T (SYNE1) | NP_149062.1:p.Arg2906Ter | |
| NM_182961.3:c.8695A>T (SYNE1) | NP_892006.3:p.Arg2899Ter | |
| NR_120501.1:n.325T>A (SYNE1-AS1) | ||
| XM_006715407.1:c.8716A>T (SYNE1) | XP_006715470.1:p.Arg2906Ter | |
| XM_006715408.1:c.8716A>T (SYNE1) | XP_006715471.1:p.Arg2906Ter | |
| XM_006715409.1:c.8695A>T (SYNE1) | XP_006715472.1:p.Arg2899Ter | |
| XM_006715410.1:c.8716A>T (SYNE1) | XP_006715473.1:p.Arg2906Ter | |
| XM_006715411.1:c.8665A>T (SYNE1) | XP_006715474.1:p.Arg2889Ter | |
| XM_006715412.1:c.8716A>T (SYNE1) | XP_006715475.1:p.Arg2906Ter | |
| XM_006715413.1:c.8716A>T (SYNE1) | XP_006715476.1:p.Arg2906Ter | |
| XM_006715414.1:c.8644A>T (SYNE1) | XP_006715477.1:p.Arg2882Ter | |
| XM_006715415.1:c.8716A>T (SYNE1) | XP_006715478.1:p.Arg2906Ter | |
| XM_006715416.1:c.8716A>T (SYNE1) | XP_006715479.1:p.Arg2906Ter | |
| XM_006715417.1:c.8716A>T (SYNE1) | XP_006715480.1:p.Arg2906Ter | |
| XM_006715420.1:c.8716A>T (SYNE1) | XP_006715483.1:p.Arg2906Ter | |
| XM_006715421.1:c.8716A>T (SYNE1) | XP_006715484.1:p.Arg2906Ter | |
| XM_006715422.1:c.8557A>T (SYNE1) | XP_006715485.1:p.Arg2853Ter | |
| XM_006715423.1:c.8716A>T (SYNE1) | XP_006715486.1:p.Arg2906Ter | |
| XM_006715424.1:c.8716A>T (SYNE1) | XP_006715487.1:p.Arg2906Ter | |
| XM_006715425.1:c.8716A>T (SYNE1) | XP_006715488.1:p.Arg2906Ter | |
| XM_011535641.1:c.8716A>T (SYNE1) | XP_011533943.1:p.Arg2906Ter | |
| XM_011535642.1:c.8716A>T (SYNE1) | XP_011533944.1:p.Arg2906Ter | |
| XM_011535643.1:c.8551A>T (SYNE1) | XP_011533945.1:p.Arg2851Ter | |
| XM_011535644.1:c.6991A>T (SYNE1) | XP_011533946.1:p.Arg2331Ter | |
| XM_011535645.1:c.6484A>T (SYNE1) | XP_011533947.1:p.Arg2162Ter | |
| XM_011535646.1:c.8716A>T (SYNE1) | XP_011533948.1:p.Arg2906Ter | |
| XM_011535647.1:c.1951A>T (SYNE1) | XP_011533949.1:p.Arg651Ter | |
| XM_006715408.2:c.8716A>T (SYNE1) | XP_006715471.1:p.Arg2906Ter | |
| XM_006715410.2:c.8716A>T (SYNE1) | XP_006715473.1:p.Arg2906Ter | |
| XM_006715412.2:c.8716A>T (SYNE1) | XP_006715475.1:p.Arg2906Ter | |
| XM_006715413.2:c.8716A>T (SYNE1) | XP_006715476.1:p.Arg2906Ter | |
| XM_006715415.2:c.8716A>T (SYNE1) | XP_006715478.1:p.Arg2906Ter | |
| XM_006715416.2:c.8716A>T (SYNE1) | XP_006715479.1:p.Arg2906Ter | |
| XM_006715417.2:c.8716A>T (SYNE1) | XP_006715480.1:p.Arg2906Ter | |
| XM_006715420.2:c.8716A>T (SYNE1) | XP_006715483.1:p.Arg2906Ter | |
| XM_006715421.2:c.8716A>T (SYNE1) | XP_006715484.1:p.Arg2906Ter | |
| XM_006715423.2:c.8716A>T (SYNE1) | XP_006715486.1:p.Arg2906Ter | |
| XM_006715424.2:c.8716A>T (SYNE1) | XP_006715487.1:p.Arg2906Ter | |
| XM_006715425.2:c.8716A>T (SYNE1) | XP_006715488.1:p.Arg2906Ter | |
| XM_011535641.2:c.8716A>T (SYNE1) | XP_011533943.1:p.Arg2906Ter | |
| XM_011535642.2:c.8716A>T (SYNE1) | XP_011533944.1:p.Arg2906Ter | |
| XM_011535645.2:c.6484A>T (SYNE1) | XP_011533947.1:p.Arg2162Ter | |
| XM_017010608.1:c.8716A>T (SYNE1) | XP_016866097.1:p.Arg2906Ter | |
| XM_017010609.1:c.8716A>T (SYNE1) | XP_016866098.1:p.Arg2906Ter | |
| XM_017010610.1:c.8695A>T (SYNE1) | XP_016866099.1:p.Arg2899Ter | |
| XM_017010611.2:c.8689A>T (SYNE1) | XP_016866100.1:p.Arg2897Ter | |
| XM_017010612.1:c.8638A>T (SYNE1) | XP_016866101.1:p.Arg2880Ter | |
| XM_017010613.1:c.8716A>T (SYNE1) | XP_016866102.1:p.Arg2906Ter | |
| XM_017010614.1:c.8716A>T (SYNE1) | XP_016866103.1:p.Arg2906Ter | |
| XM_017010615.1:c.8716A>T (SYNE1) | XP_016866104.1:p.Arg2906Ter | |
| XM_017010616.1:c.8716A>T (SYNE1) | XP_016866105.1:p.Arg2906Ter | |
| XM_017010617.1:c.8716A>T (SYNE1) | XP_016866106.1:p.Arg2906Ter | |
| XM_017010618.1:c.8716A>T (SYNE1) | XP_016866107.1:p.Arg2906Ter | |
| XM_017010619.1:c.6991A>T (SYNE1) | XP_016866108.1:p.Arg2331Ter | |
| XR_001743287.1:n.9199A>T (SYNE1) | ||
| NM_182961.4:c.8695A>T (SYNE1) MANE Select | NP_892006.3:p.Arg2899Ter | |
| NM_033071.5:c.8716A>T (SYNE1) | NP_149062.2:p.Arg2906Ter |