Revel Score:
ENST00000367255 (MANE Select)
0.024
ENST00000423061
0.024
ENST00000265368
0.024
ENST00000448038
0.024
ENST00000341594
0.024
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013915 (NFE)
Genomes Max Group AF
0.00013493 (NFE)
Exomes Max Group AF
0.00013527 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152381176G>C , CM000668.2:g.152381176G>C | GRCh38 |
| NC_000006.11:g.152702311G>C , CM000668.1:g.152702311G>C | GRCh37 |
| NC_000006.10:g.152744004G>C | NCBI36 |
| NG_012855.1:g.261224C>G | |
| NG_012855.2:g.261224C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454018.7:c.190C>G (SYNE1) | ENSP00000390858.4:p.Leu64Val | |
| ENST00000367255.10:c.8839C>G (SYNE1) MANE Select | ENSP00000356224.5:p.Leu2947Val | |
| ENST00000423061.6:c.8860C>G (SYNE1) | ENSP00000396024.1:p.Leu2954Val | |
| ENST00000341594.9:c.8905C>G (SYNE1) | ENSP00000341887.6:p.Leu2969Val | |
| ENST00000367255.9:c.8839C>G (SYNE1) | ENSP00000356224.5:p.Leu2947Val | |
| ENST00000423061.5:c.8860C>G (SYNE1) | ENSP00000396024.1:p.Leu2954Val | |
| ENST00000454018.6:c.187C>G (SYNE1) | ENSP00000390858.3:p.Leu63Val | |
| ENST00000461872.6:n.9057C>G (SYNE1) | ||
| ENST00000471834.1:n.45C>G (SYNE1) | ||
| NM_033071.3:c.8860C>G (SYNE1) | NP_149062.1:p.Leu2954Val | |
| NM_182961.3:c.8839C>G (SYNE1) | NP_892006.3:p.Leu2947Val | |
| NR_120501.1:n.181G>C (SYNE1-AS1) | ||
| XM_006715407.1:c.8860C>G (SYNE1) | XP_006715470.1:p.Leu2954Val | |
| XM_006715408.1:c.8860C>G (SYNE1) | XP_006715471.1:p.Leu2954Val | |
| XM_006715409.1:c.8839C>G (SYNE1) | XP_006715472.1:p.Leu2947Val | |
| XM_006715410.1:c.8860C>G (SYNE1) | XP_006715473.1:p.Leu2954Val | |
| XM_006715411.1:c.8809C>G (SYNE1) | XP_006715474.1:p.Leu2937Val | |
| XM_006715412.1:c.8860C>G (SYNE1) | XP_006715475.1:p.Leu2954Val | |
| XM_006715413.1:c.8860C>G (SYNE1) | XP_006715476.1:p.Leu2954Val | |
| XM_006715414.1:c.8788C>G (SYNE1) | XP_006715477.1:p.Leu2930Val | |
| XM_006715415.1:c.8860C>G (SYNE1) | XP_006715478.1:p.Leu2954Val | |
| XM_006715416.1:c.8860C>G (SYNE1) | XP_006715479.1:p.Leu2954Val | |
| XM_006715417.1:c.8860C>G (SYNE1) | XP_006715480.1:p.Leu2954Val | |
| XM_006715420.1:c.8860C>G (SYNE1) | XP_006715483.1:p.Leu2954Val | |
| XM_006715421.1:c.8860C>G (SYNE1) | XP_006715484.1:p.Leu2954Val | |
| XM_006715422.1:c.8701C>G (SYNE1) | XP_006715485.1:p.Leu2901Val | |
| XM_006715423.1:c.8860C>G (SYNE1) | XP_006715486.1:p.Leu2954Val | |
| XM_006715424.1:c.8860C>G (SYNE1) | XP_006715487.1:p.Leu2954Val | |
| XM_006715425.1:c.8860C>G (SYNE1) | XP_006715488.1:p.Leu2954Val | |
| XM_011535641.1:c.8860C>G (SYNE1) | XP_011533943.1:p.Leu2954Val | |
| XM_011535642.1:c.8860C>G (SYNE1) | XP_011533944.1:p.Leu2954Val | |
| XM_011535643.1:c.8695C>G (SYNE1) | XP_011533945.1:p.Leu2899Val | |
| XM_011535644.1:c.7135C>G (SYNE1) | XP_011533946.1:p.Leu2379Val | |
| XM_011535645.1:c.6628C>G (SYNE1) | XP_011533947.1:p.Leu2210Val | |
| XM_011535646.1:c.8860C>G (SYNE1) | XP_011533948.1:p.Leu2954Val | |
| XM_011535647.1:c.2095C>G (SYNE1) | XP_011533949.1:p.Leu699Val | |
| XM_006715408.2:c.8860C>G (SYNE1) | XP_006715471.1:p.Leu2954Val | |
| XM_006715410.2:c.8860C>G (SYNE1) | XP_006715473.1:p.Leu2954Val | |
| XM_006715412.2:c.8860C>G (SYNE1) | XP_006715475.1:p.Leu2954Val | |
| XM_006715413.2:c.8860C>G (SYNE1) | XP_006715476.1:p.Leu2954Val | |
| XM_006715415.2:c.8860C>G (SYNE1) | XP_006715478.1:p.Leu2954Val | |
| XM_006715416.2:c.8860C>G (SYNE1) | XP_006715479.1:p.Leu2954Val | |
| XM_006715417.2:c.8860C>G (SYNE1) | XP_006715480.1:p.Leu2954Val | |
| XM_006715420.2:c.8860C>G (SYNE1) | XP_006715483.1:p.Leu2954Val | |
| XM_006715421.2:c.8860C>G (SYNE1) | XP_006715484.1:p.Leu2954Val | |
| XM_006715423.2:c.8860C>G (SYNE1) | XP_006715486.1:p.Leu2954Val | |
| XM_006715424.2:c.8860C>G (SYNE1) | XP_006715487.1:p.Leu2954Val | |
| XM_006715425.2:c.8860C>G (SYNE1) | XP_006715488.1:p.Leu2954Val | |
| XM_011535641.2:c.8860C>G (SYNE1) | XP_011533943.1:p.Leu2954Val | |
| XM_011535642.2:c.8860C>G (SYNE1) | XP_011533944.1:p.Leu2954Val | |
| XM_011535645.2:c.6628C>G (SYNE1) | XP_011533947.1:p.Leu2210Val | |
| XM_017010608.1:c.8860C>G (SYNE1) | XP_016866097.1:p.Leu2954Val | |
| XM_017010609.1:c.8860C>G (SYNE1) | XP_016866098.1:p.Leu2954Val | |
| XM_017010610.1:c.8839C>G (SYNE1) | XP_016866099.1:p.Leu2947Val | |
| XM_017010611.2:c.8833C>G (SYNE1) | XP_016866100.1:p.Leu2945Val | |
| XM_017010612.1:c.8782C>G (SYNE1) | XP_016866101.1:p.Leu2928Val | |
| XM_017010613.1:c.8860C>G (SYNE1) | XP_016866102.1:p.Leu2954Val | |
| XM_017010614.1:c.8860C>G (SYNE1) | XP_016866103.1:p.Leu2954Val | |
| XM_017010615.1:c.8860C>G (SYNE1) | XP_016866104.1:p.Leu2954Val | |
| XM_017010616.1:c.8860C>G (SYNE1) | XP_016866105.1:p.Leu2954Val | |
| XM_017010617.1:c.8860C>G (SYNE1) | XP_016866106.1:p.Leu2954Val | |
| XM_017010618.1:c.8860C>G (SYNE1) | XP_016866107.1:p.Leu2954Val | |
| XM_017010619.1:c.7135C>G (SYNE1) | XP_016866108.1:p.Leu2379Val | |
| XR_001743287.1:n.9343C>G (SYNE1) | ||
| NM_182961.4:c.8839C>G (SYNE1) MANE Select | NP_892006.3:p.Leu2947Val | |
| NM_033071.5:c.8860C>G (SYNE1) | NP_149062.2:p.Leu2954Val |