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.152122517G= , CM000668.2:g.152122517G= | GRCh38 |
| NC_000006.11:g.152443652G= , CM000668.1:g.152443652G= | GRCh37 |
| NC_000006.10:g.152485345G= | NCBI36 |
| NG_012855.1:g.519883C= | |
| NG_008493.2:g.470827G= | |
| NG_012855.2:g.519883C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2847C= (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Asp949= | |
| ENST00000367255.10:c.26313C= (SYNE1) MANE Select | ENSP00000356224.5:p.Asp8771= | |
| ENST00000423061.6:c.26169C= (SYNE1) | ENSP00000396024.1:p.Asp8723= | |
| ENST00000672154.1:c.1656C= (SYNE1) | ||
| ENST00000672169.1:c.2031C= (SYNE1) | ||
| ENST00000673173.1:c.1898C= (SYNE1) | ||
| ENST00000673451.1:c.2163C= (SYNE1) | ENSP00000500189.1:n.2163C= | |
| ENST00000341594.9:c.25098C= (SYNE1) | ENSP00000341887.6:p.Asp8366= | |
| ENST00000347037.9:n.3061C= (SYNE1) | ||
| ENST00000354674.4:c.2847C= (SYNE1) | ENSP00000346701.4:p.Asp949= | |
| ENST00000367251.7:c.5089C= (SYNE1) | ENSP00000356220.3:n.5089C= | |
| ENST00000367255.9:c.26313C= (SYNE1) | ENSP00000356224.5:p.Asp8771= | |
| ENST00000367256.9:n.10005C= (SYNE1) | ||
| ENST00000367257.8:c.4192C= (SYNE1) | ENSP00000356226.4:n.4192C= | |
| ENST00000409694.6:n.9897C= (SYNE1) | ||
| ENST00000423061.5:c.26169C= (SYNE1) | ENSP00000396024.1:p.Asp8723= | |
| ENST00000427531.6:c.851-2749G= (ESR1) | ENSP00000394721.2:n.851-2749G= | |
| ENST00000460912.6:n.2927C= (SYNE1) | ||
| ENST00000478916.5:n.6950C= (SYNE1) | ||
| ENST00000539504.5:c.2778C= (SYNE1) | ENSP00000441052.1:p.Asp926= | |
| NM_033071.3:c.26169C= (SYNE1) | NP_149062.1:p.Asp8723= | |
| NM_182961.3:c.26313C= (SYNE1) | NP_892006.3:p.Asp8771= | |
| XM_006715407.1:c.26460C= (SYNE1) | XP_006715470.1:p.Asp8820= | |
| XM_006715408.1:c.26448C= (SYNE1) | XP_006715471.1:p.Asp8816= | |
| XM_006715409.1:c.26439C= (SYNE1) | XP_006715472.1:p.Asp8813= | |
| XM_006715410.1:c.26418C= (SYNE1) | XP_006715473.1:p.Asp8806= | |
| XM_006715411.1:c.26409C= (SYNE1) | XP_006715474.1:p.Asp8803= | |
| XM_006715412.1:c.26403C= (SYNE1) | XP_006715475.1:p.Asp8801= | |
| XM_006715413.1:c.26391C= (SYNE1) | XP_006715476.1:p.Asp8797= | |
| XM_006715414.1:c.26388C= (SYNE1) | XP_006715477.1:p.Asp8796= | |
| XM_006715415.1:c.26349C= (SYNE1) | XP_006715478.1:p.Asp8783= | |
| XM_006715416.1:c.26334C= (SYNE1) | XP_006715479.1:p.Asp8778= | |
| XM_006715417.1:c.26319C= (SYNE1) | XP_006715480.1:p.Asp8773= | |
| XM_006715420.1:c.26307C= (SYNE1) | XP_006715483.1:p.Asp8769= | |
| XM_006715421.1:c.26304C= (SYNE1) | XP_006715484.1:p.Asp8768= | |
| XM_006715422.1:c.26301C= (SYNE1) | XP_006715485.1:p.Asp8767= | |
| XM_006715423.1:c.*124C= (SYNE1) | XP_006715486.1:n.*124C= | |
| XM_006715424.1:c.*124C= (SYNE1) | XP_006715487.1:n.*124C= | |
| XM_006715425.1:c.*124C= (SYNE1) | XP_006715488.1:n.*124C= | |
| XM_011535641.1:c.26457C= (SYNE1) | XP_011533943.1:p.Asp8819= | |
| XM_011535642.1:c.26445C= (SYNE1) | XP_011533944.1:p.Asp8815= | |
| XM_011535643.1:c.26295C= (SYNE1) | XP_011533945.1:p.Asp8765= | |
| XM_011535644.1:c.24735C= (SYNE1) | XP_011533946.1:p.Asp8245= | |
| XM_011535645.1:c.24228C= (SYNE1) | XP_011533947.1:p.Asp8076= | |
| XM_011535647.1:c.19695C= (SYNE1) | XP_011533949.1:p.Asp6565= | |
| NM_001328100.1:c.851-2749G= (ESR1) | NP_001315029.1:n.851-2749G= | |
| NM_001347701.1:c.*124C= (SYNE1) | NP_001334630.1:n.*124C= | |
| NM_001347702.1:c.2847C= (SYNE1) | NP_001334631.1:p.Asp949= | |
| XM_006715408.2:c.26448C= (SYNE1) | XP_006715471.1:p.Asp8816= | |
| XM_006715410.2:c.26418C= (SYNE1) | XP_006715473.1:p.Asp8806= | |
| XM_006715412.2:c.26403C= (SYNE1) | XP_006715475.1:p.Asp8801= | |
| XM_006715413.2:c.26391C= (SYNE1) | XP_006715476.1:p.Asp8797= | |
| XM_006715415.2:c.26349C= (SYNE1) | XP_006715478.1:p.Asp8783= | |
| XM_006715416.2:c.26334C= (SYNE1) | XP_006715479.1:p.Asp8778= | |
| XM_006715417.2:c.26319C= (SYNE1) | XP_006715480.1:p.Asp8773= | |
| XM_006715420.2:c.26307C= (SYNE1) | XP_006715483.1:p.Asp8769= | |
| XM_006715421.2:c.26304C= (SYNE1) | XP_006715484.1:p.Asp8768= | |
| XM_006715423.2:c.*124C= (SYNE1) | XP_006715486.1:n.*124C= | |
| XM_006715424.2:c.*124C= (SYNE1) | XP_006715487.1:n.*124C= | |
| XM_006715425.2:c.*124C= (SYNE1) | XP_006715488.1:n.*124C= | |
| XM_011535641.2:c.26457C= (SYNE1) | XP_011533943.1:p.Asp8819= | |
| XM_011535642.2:c.26445C= (SYNE1) | XP_011533944.1:p.Asp8815= | |
| XM_011535645.2:c.24228C= (SYNE1) | XP_011533947.1:p.Asp8076= | |
| XM_017010608.1:c.26460C= (SYNE1) | XP_016866097.1:p.Asp8820= | |
| XM_017010609.1:c.26460C= (SYNE1) | XP_016866098.1:p.Asp8820= | |
| XM_017010610.1:c.26439C= (SYNE1) | XP_016866099.1:p.Asp8813= | |
| XM_017010611.2:c.26433C= (SYNE1) | XP_016866100.1:p.Asp8811= | |
| XM_017010612.1:c.26382C= (SYNE1) | XP_016866101.1:p.Asp8794= | |
| XM_017010613.1:c.26346C= (SYNE1) | XP_016866102.1:p.Asp8782= | |
| XM_017010614.1:c.26304C= (SYNE1) | XP_016866103.1:p.Asp8768= | |
| XM_017010615.1:c.26193C= (SYNE1) | XP_016866104.1:p.Asp8731= | |
| XM_017010616.1:c.*124C= (SYNE1) | XP_016866105.1:n.*124C= | |
| XM_017010617.1:c.*124C= (SYNE1) | XP_016866106.1:n.*124C= | |
| XM_017010618.1:c.*124C= (SYNE1) | XP_016866107.1:n.*124C= | |
| XM_017010619.1:c.24735C= (SYNE1) | XP_016866108.1:p.Asp8245= | |
| NM_182961.4:c.26313C= (SYNE1) MANE Select | NP_892006.3:p.Asp8771= | |
| NM_001328100.2:c.851-2749G= (ESR1) | NP_001315029.1:n.851-2749G= | |
| NM_001347701.2:c.*124C= (SYNE1) | NP_001334630.1:n.*124C= | |
| NM_001347702.2:c.2847C= (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Asp949= | |
| NM_033071.5:c.26169C= (SYNE1) | NP_149062.2:p.Asp8723= |