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_000002.12:g.201728500A= , CM000664.2:g.201728500A= | GRCh38 |
| NC_000002.11:g.202593223A= , CM000664.1:g.202593223A= | GRCh37 |
| NC_000002.10:g.202301468A= | NCBI36 |
| NG_008775.1:g.57673T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.2841+12T= MANE Select | ENSP00000264276.6:n.2841+12T= | |
| ENST00000439495.6:c.519+12T= | ENSP00000403832.2:n.519+12T= | |
| ENST00000482891.6:n.3183+12T= | ||
| ENST00000494017.6:n.573+12T= | ||
| ENST00000679409.1:c.519+12T= | ENSP00000506531.1:n.519+12T= | |
| ENST00000679416.1:n.3195T= | ||
| ENST00000679435.1:c.2841+12T= | ENSP00000505218.1:n.2841+12T= | |
| ENST00000679516.1:c.2841+12T= | ENSP00000505187.1:n.2841+12T= | |
| ENST00000679618.1:c.2841+12T= | ENSP00000506274.1:n.2841+12T= | |
| ENST00000679630.1:n.3195T= | ||
| ENST00000679686.1:n.2955+12T= | ||
| ENST00000679701.1:n.3195T= | ||
| ENST00000679916.1:c.2841+12T= | ENSP00000506172.1:n.2841+12T= | |
| ENST00000680000.1:c.2841+12T= | ENSP00000506173.1:n.2841+12T= | |
| ENST00000680135.1:c.*805+12T= | ENSP00000506211.1:n.*805+12T= | |
| ENST00000680149.1:c.2841+12T= | ENSP00000506497.1:n.2841+12T= | |
| ENST00000680163.1:c.2841+12T= | ENSP00000505092.1:n.2841+12T= | |
| ENST00000680174.1:n.3532+12T= | ||
| ENST00000680236.1:c.2841+12T= | ENSP00000506212.1:n.2841+12T= | |
| ENST00000680497.1:c.2943+12T= | ENSP00000505954.1:n.2943+12T= | |
| ENST00000680508.1:c.2841+12T= | ENSP00000505749.1:n.2841+12T= | |
| ENST00000680569.1:c.*552+12T= | ENSP00000505522.1:n.*552+12T= | |
| ENST00000680630.1:n.3273+12T= | ||
| ENST00000680634.1:n.21-8011T= | ||
| ENST00000680722.1:n.641+12T= | ||
| ENST00000680723.1:n.986T= | ||
| ENST00000680726.1:c.2841+12T= | ENSP00000505505.1:n.2841+12T= | |
| ENST00000680737.1:n.3183+12T= | ||
| ENST00000680759.1:c.2841+12T= | ENSP00000505848.1:n.2841+12T= | |
| ENST00000680814.1:c.2841+12T= | ENSP00000505710.1:n.2841+12T= | |
| ENST00000680828.1:c.*413+12T= | ENSP00000505249.1:n.*413+12T= | |
| ENST00000680861.1:c.2841+12T= | ENSP00000505043.1:n.2841+12T= | |
| ENST00000680927.1:c.2841+12T= | ENSP00000505473.1:n.2841+12T= | |
| ENST00000680939.1:n.3183+12T= | ||
| ENST00000681152.1:c.2841+12T= | ENSP00000505388.1:n.2841+12T= | |
| ENST00000681250.1:c.1472-3046T= | ENSP00000505684.1:n.1472-3046T= | |
| ENST00000681256.1:c.*433+12T= | ENSP00000505446.1:n.*433+12T= | |
| ENST00000681279.1:n.3183+12T= | ||
| ENST00000681303.1:c.2841+12T= | ENSP00000505576.1:n.2841+12T= | |
| ENST00000681307.1:n.3183+12T= | ||
| ENST00000681461.1:n.3183+12T= | ||
| ENST00000681495.1:c.519+12T= | ENSP00000506085.1:n.519+12T= | |
| ENST00000681558.1:c.519+12T= | ENSP00000505568.1:n.519+12T= | |
| ENST00000681619.1:c.2841+12T= | ENSP00000505071.1:n.2841+12T= | |
| ENST00000681716.1:c.*552+12T= | ENSP00000505078.1:n.*552+12T= | |
| ENST00000681758.1:n.3183+12T= | ||
| ENST00000681768.1:c.*505+12T= | ENSP00000506311.1:n.*505+12T= | |
| ENST00000681808.1:c.2841+12T= | ENSP00000505219.1:n.2841+12T= | |
| ENST00000264276.10:c.2841+12T= | ENSP00000264276.6:n.2841+12T= | |
| ENST00000439495.5:c.802+12T= | ||
| ENST00000482891.5:n.2981+12T= | ||
| ENST00000494017.5:n.439+12T= | ||
| NM_020919.3:c.2841+12T= | NP_065970.2:n.2841+12T= | |
| XM_005246709.2:c.2841+12T= | XP_005246766.1:n.2841+12T= | |
| XM_006712654.1:c.2841+12T= | XP_006712717.1:n.2841+12T= | |
| XM_006712655.2:c.777+12T= | XP_006712718.1:n.777+12T= | |
| XM_011511530.1:c.2502+12T= | XP_011509832.1:n.2502+12T= | |
| XM_011511531.1:c.2841+12T= | XP_011509833.1:n.2841+12T= | |
| XR_922974.1:n.2976+12T= | ||
| XM_006712654.3:c.2841+12T= | XP_006712717.1:n.2841+12T= | |
| XM_006712655.3:c.777+12T= | XP_006712718.1:n.777+12T= | |
| XM_017004569.2:c.2841+12T= | XP_016860058.1:n.2841+12T= | |
| XM_017004570.2:c.2841+12T= | XP_016860059.1:n.2841+12T= | |
| XM_017004572.2:c.459+12T= | XP_016860061.1:n.459+12T= | |
| XM_024453024.1:c.2502+12T= | XP_024308792.1:n.2502+12T= | |
| XM_024453025.1:c.777+12T= | XP_024308793.1:n.777+12T= | |
| XR_001738864.2:n.2976+12T= | ||
| XR_001738865.2:n.2976+12T= | ||
| XR_001738866.2:n.2976+12T= | ||
| XR_001738867.2:n.2976+12T= | ||
| XR_002959320.1:n.2032+12T= | ||
| NM_020919.4:c.2841+12T= MANE Select | NP_065970.2:n.2841+12T= |