UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122526T>C , CM000668.2:g.152122526T>C | GRCh38 |
| NC_000006.11:g.152443661T>C , CM000668.1:g.152443661T>C | GRCh37 |
| NC_000006.10:g.152485354T>C | NCBI36 |
| NG_012855.1:g.519874A>G | |
| NG_008493.2:g.470836T>C | |
| NG_012855.2:g.519874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2838A>G (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Ser946= | |
| ENST00000367255.10:c.26304A>G (SYNE1) MANE Select | ENSP00000356224.5:p.Ser8768= | |
| ENST00000423061.6:c.26160A>G (SYNE1) | ENSP00000396024.1:p.Ser8720= | |
| ENST00000672154.1:c.1647A>G (SYNE1) | ||
| ENST00000672169.1:c.2022A>G (SYNE1) | ||
| ENST00000673173.1:c.1889A>G (SYNE1) | ||
| ENST00000673451.1:c.2154A>G (SYNE1) | ENSP00000500189.1:n.2154A>G | |
| ENST00000341594.9:c.25089A>G (SYNE1) | ENSP00000341887.6:p.Ser8363= | |
| ENST00000347037.9:n.3052A>G (SYNE1) | ||
| ENST00000354674.4:c.2838A>G (SYNE1) | ENSP00000346701.4:p.Ser946= | |
| ENST00000367251.7:c.5080A>G (SYNE1) | ENSP00000356220.3:n.5080A>G | |
| ENST00000367255.9:c.26304A>G (SYNE1) | ENSP00000356224.5:p.Ser8768= | |
| ENST00000367256.9:n.9996A>G (SYNE1) | ||
| ENST00000367257.8:c.4183A>G (SYNE1) | ENSP00000356226.4:n.4183A>G | |
| ENST00000409694.6:n.9888A>G (SYNE1) | ||
| ENST00000423061.5:c.26160A>G (SYNE1) | ENSP00000396024.1:p.Ser8720= | |
| ENST00000427531.6:c.851-2740T>C (ESR1) | ENSP00000394721.2:n.851-2740T>C | |
| ENST00000460912.6:n.2918A>G (SYNE1) | ||
| ENST00000478916.5:n.6941A>G (SYNE1) | ||
| ENST00000539504.5:c.2769A>G (SYNE1) | ENSP00000441052.1:p.Ser923= | |
| NM_033071.3:c.26160A>G (SYNE1) | NP_149062.1:p.Ser8720= | |
| NM_182961.3:c.26304A>G (SYNE1) | NP_892006.3:p.Ser8768= | |
| XM_006715407.1:c.26451A>G (SYNE1) | XP_006715470.1:p.Ser8817= | |
| XM_006715408.1:c.26439A>G (SYNE1) | XP_006715471.1:p.Ser8813= | |
| XM_006715409.1:c.26430A>G (SYNE1) | XP_006715472.1:p.Ser8810= | |
| XM_006715410.1:c.26409A>G (SYNE1) | XP_006715473.1:p.Ser8803= | |
| XM_006715411.1:c.26400A>G (SYNE1) | XP_006715474.1:p.Ser8800= | |
| XM_006715412.1:c.26394A>G (SYNE1) | XP_006715475.1:p.Ser8798= | |
| XM_006715413.1:c.26382A>G (SYNE1) | XP_006715476.1:p.Ser8794= | |
| XM_006715414.1:c.26379A>G (SYNE1) | XP_006715477.1:p.Ser8793= | |
| XM_006715415.1:c.26340A>G (SYNE1) | XP_006715478.1:p.Ser8780= | |
| XM_006715416.1:c.26325A>G (SYNE1) | XP_006715479.1:p.Ser8775= | |
| XM_006715417.1:c.26310A>G (SYNE1) | XP_006715480.1:p.Ser8770= | |
| XM_006715420.1:c.26298A>G (SYNE1) | XP_006715483.1:p.Ser8766= | |
| XM_006715421.1:c.26295A>G (SYNE1) | XP_006715484.1:p.Ser8765= | |
| XM_006715422.1:c.26292A>G (SYNE1) | XP_006715485.1:p.Ser8764= | |
| XM_006715423.1:c.*115A>G (SYNE1) | XP_006715486.1:n.*115A>G | |
| XM_006715424.1:c.*115A>G (SYNE1) | XP_006715487.1:n.*115A>G | |
| XM_006715425.1:c.*115A>G (SYNE1) | XP_006715488.1:n.*115A>G | |
| XM_011535641.1:c.26448A>G (SYNE1) | XP_011533943.1:p.Ser8816= | |
| XM_011535642.1:c.26436A>G (SYNE1) | XP_011533944.1:p.Ser8812= | |
| XM_011535643.1:c.26286A>G (SYNE1) | XP_011533945.1:p.Ser8762= | |
| XM_011535644.1:c.24726A>G (SYNE1) | XP_011533946.1:p.Ser8242= | |
| XM_011535645.1:c.24219A>G (SYNE1) | XP_011533947.1:p.Ser8073= | |
| XM_011535647.1:c.19686A>G (SYNE1) | XP_011533949.1:p.Ser6562= | |
| NM_001328100.1:c.851-2740T>C (ESR1) | NP_001315029.1:n.851-2740T>C | |
| NM_001347701.1:c.*115A>G (SYNE1) | NP_001334630.1:n.*115A>G | |
| NM_001347702.1:c.2838A>G (SYNE1) | NP_001334631.1:p.Ser946= | |
| XM_006715408.2:c.26439A>G (SYNE1) | XP_006715471.1:p.Ser8813= | |
| XM_006715410.2:c.26409A>G (SYNE1) | XP_006715473.1:p.Ser8803= | |
| XM_006715412.2:c.26394A>G (SYNE1) | XP_006715475.1:p.Ser8798= | |
| XM_006715413.2:c.26382A>G (SYNE1) | XP_006715476.1:p.Ser8794= | |
| XM_006715415.2:c.26340A>G (SYNE1) | XP_006715478.1:p.Ser8780= | |
| XM_006715416.2:c.26325A>G (SYNE1) | XP_006715479.1:p.Ser8775= | |
| XM_006715417.2:c.26310A>G (SYNE1) | XP_006715480.1:p.Ser8770= | |
| XM_006715420.2:c.26298A>G (SYNE1) | XP_006715483.1:p.Ser8766= | |
| XM_006715421.2:c.26295A>G (SYNE1) | XP_006715484.1:p.Ser8765= | |
| XM_006715423.2:c.*115A>G (SYNE1) | XP_006715486.1:n.*115A>G | |
| XM_006715424.2:c.*115A>G (SYNE1) | XP_006715487.1:n.*115A>G | |
| XM_006715425.2:c.*115A>G (SYNE1) | XP_006715488.1:n.*115A>G | |
| XM_011535641.2:c.26448A>G (SYNE1) | XP_011533943.1:p.Ser8816= | |
| XM_011535642.2:c.26436A>G (SYNE1) | XP_011533944.1:p.Ser8812= | |
| XM_011535645.2:c.24219A>G (SYNE1) | XP_011533947.1:p.Ser8073= | |
| XM_017010608.1:c.26451A>G (SYNE1) | XP_016866097.1:p.Ser8817= | |
| XM_017010609.1:c.26451A>G (SYNE1) | XP_016866098.1:p.Ser8817= | |
| XM_017010610.1:c.26430A>G (SYNE1) | XP_016866099.1:p.Ser8810= | |
| XM_017010611.2:c.26424A>G (SYNE1) | XP_016866100.1:p.Ser8808= | |
| XM_017010612.1:c.26373A>G (SYNE1) | XP_016866101.1:p.Ser8791= | |
| XM_017010613.1:c.26337A>G (SYNE1) | XP_016866102.1:p.Ser8779= | |
| XM_017010614.1:c.26295A>G (SYNE1) | XP_016866103.1:p.Ser8765= | |
| XM_017010615.1:c.26184A>G (SYNE1) | XP_016866104.1:p.Ser8728= | |
| XM_017010616.1:c.*115A>G (SYNE1) | XP_016866105.1:n.*115A>G | |
| XM_017010617.1:c.*115A>G (SYNE1) | XP_016866106.1:n.*115A>G | |
| XM_017010618.1:c.*115A>G (SYNE1) | XP_016866107.1:n.*115A>G | |
| XM_017010619.1:c.24726A>G (SYNE1) | XP_016866108.1:p.Ser8242= | |
| NM_182961.4:c.26304A>G (SYNE1) MANE Select | NP_892006.3:p.Ser8768= | |
| NM_001328100.2:c.851-2740T>C (ESR1) | NP_001315029.1:n.851-2740T>C | |
| NM_001347701.2:c.*115A>G (SYNE1) | NP_001334630.1:n.*115A>G | |
| NM_001347702.2:c.2838A>G (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Ser946= | |
| NM_033071.5:c.26160A>G (SYNE1) | NP_149062.2:p.Ser8720= |