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.201287706C= , CM000664.2:g.201287706C= | GRCh38 |
| NC_000002.11:g.202152429C= , CM000664.1:g.202152429C= | GRCh37 |
| NC_000002.10:g.201860674C= | NCBI36 |
| NG_007497.1:g.59249C= , LRG_34:g.59249C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444430.3:c.2300C= | ENSP00000394434.3:n.2300C= | |
| ENST00000696069.1:c.1259+2389C= | ENSP00000512371.1:n.1259+2389C= | |
| ENST00000673742.1:c.*1112C= MANE Select | ENSP00000501268.1:n.*1112C= | |
| ENST00000264274.13:c.*1112C= | ENSP00000264274.9:n.*1112C= | |
| ENST00000323492.11:c.*1112C= | ENSP00000325722.7:n.*1112C= | |
| ENST00000358485.8:c.*1112C= | ENSP00000351273.4:n.*1112C= | |
| NM_001080124.1:c.*1112C= | NP_001073593.1:n.*1112C= | |
| NM_001080125.1:c.*1112C= | NP_001073594.1:n.*1112C= | |
| NM_001228.4:c.*1112C= , LRG_34t1:c.*1112C= | NP_001219.2:n.*1112C= | |
| NM_033355.3:c.*1112C= , LRG_34t2:c.*1112C= | NP_203519.1:n.*1112C= | |
| NM_033356.3:c.*1112C= | NP_203520.1:n.*1112C= | |
| NR_111983.1:n.3066C= | ||
| XM_005246885.1:c.*1112C= | XP_005246942.1:n.*1112C= | |
| XM_005246886.1:c.*1112C= | XP_005246943.1:n.*1112C= | |
| XM_005246887.1:c.*1112C= | XP_005246944.1:n.*1112C= | |
| XM_005246888.1:c.*1112C= | XP_005246945.1:n.*1112C= | |
| XM_005246889.1:c.*1112C= | XP_005246946.1:n.*1112C= | |
| XM_005246890.2:c.*1112C= | XP_005246947.1:n.*1112C= | |
| XM_005246891.3:c.*1112C= | XP_005246948.1:n.*1112C= | |
| XM_005246892.1:c.*1112C= | XP_005246949.1:n.*1112C= | |
| XM_005246894.2:c.*1112C= | XP_005246951.1:n.*1112C= | |
| XM_006712789.1:c.*1112C= | XP_006712852.1:n.*1112C= | |
| XM_006712790.2:c.*1112C= | XP_006712853.1:n.*1112C= | |
| XM_006712791.1:c.*1112C= | XP_006712854.1:n.*1112C= | |
| XM_011511969.1:c.*1112C= | XP_011510271.1:n.*1112C= | |
| NM_001080124.2:c.*1112C= | NP_001073593.1:n.*1112C= | |
| NM_001080125.2:c.*1112C= | NP_001073594.1:n.*1112C= | |
| NM_001372051.1:c.*1112C= MANE Select | NP_001358980.1:n.*1112C= | |
| NM_033356.4:c.*1112C= | NP_203520.1:n.*1112C= | |
| NR_111983.2:n.3062C= | ||
| NM_001400642.1:c.*1112C= | NP_001387571.1:n.*1112C= | |
| NM_001400645.1:c.*1112C= | NP_001387574.1:n.*1112C= | |
| NM_001400648.1:c.*1112C= | NP_001387577.1:n.*1112C= | |
| NM_001400651.1:c.*1112C= | NP_001387580.1:n.*1112C= | |
| NM_001400653.1:c.*1112C= | NP_001387582.1:n.*1112C= | |
| NM_001400654.1:c.*1112C= | NP_001387583.1:n.*1112C= | |
| NM_001400655.1:c.*1112C= | NP_001387584.1:n.*1112C= | |
| NM_001400656.1:c.*1112C= | NP_001387585.1:n.*1112C= | |
| NM_001400657.1:c.*1112C= | NP_001387586.1:n.*1112C= | |
| NM_001400658.1:c.*1112C= | NP_001387587.1:n.*1112C= | |
| NM_001400659.1:c.*1112C= | NP_001387588.1:n.*1112C= | |
| NM_001400660.1:c.*1112C= | NP_001387589.1:n.*1112C= | |
| NM_001400661.1:c.*1112C= | NP_001387590.1:n.*1112C= | |
| NM_001400662.1:c.*1112C= | NP_001387591.1:n.*1112C= | |
| NM_001400663.1:c.*1112C= | NP_001387592.1:n.*1112C= | |
| NM_001400664.1:c.*1112C= | NP_001387593.1:n.*1112C= | |
| NM_001400665.1:c.*1112C= | NP_001387594.1:n.*1112C= | |
| NM_001400666.1:c.*1112C= | NP_001387595.1:n.*1112C= | |
| NM_001400667.1:c.*1112C= | NP_001387596.1:n.*1112C= | |
| NM_001400668.1:c.*1112C= | NP_001387597.1:n.*1112C= | |
| NM_001400669.1:c.*1112C= | NP_001387598.1:n.*1112C= | |
| NM_001400670.1:c.*1112C= | NP_001387599.1:n.*1112C= | |
| NM_001400671.1:c.*1112C= | NP_001387600.1:n.*1112C= | |
| NM_001400672.1:c.*1112C= | NP_001387601.1:n.*1112C= | |
| NM_001400673.1:c.*1112C= | NP_001387602.1:n.*1112C= | |
| NM_001400674.1:c.*1112C= | NP_001387603.1:n.*1112C= | |
| NM_001400675.1:c.*1112C= | NP_001387604.1:n.*1112C= | |
| NM_001400676.1:c.*1112C= | NP_001387605.1:n.*1112C= | |
| NM_001400677.1:c.*1112C= | NP_001387606.1:n.*1112C= | |
| NM_001400678.1:c.*1112C= | NP_001387607.1:n.*1112C= | |
| NM_001400680.1:c.*1112C= | NP_001387609.1:n.*1112C= | |
| NM_001400750.1:c.*1112C= | NP_001387679.1:n.*1112C= | |
| NM_001400751.1:c.*1112C= | NP_001387680.1:n.*1112C= | |
| NR_174564.1:n.2641C= | ||
| NR_174565.1:n.2771C= | ||
| NR_174581.1:n.2797C= | ||
| NR_174583.1:n.2903C= | ||
| NR_174584.1:n.2816C= | ||
| NR_174585.1:n.2834C= | ||
| NR_174586.1:n.2808C= | ||
| NR_174588.1:n.2971C= | ||
| NR_174589.1:n.2766C= | ||
| NR_174590.1:n.2858C= | ||
| NR_174591.1:n.2789C= | ||
| NR_174592.1:n.3134C= | ||
| NR_174593.1:n.2932C= | ||
| NR_174594.1:n.2975C= | ||
| NR_174595.1:n.2890C= | ||
| NR_174596.1:n.2727C= | ||
| NR_174598.1:n.3085C= | ||
| NR_174599.1:n.2469C= | ||
| NR_174600.1:n.2997C= | ||
| NR_174601.1:n.2922C= | ||
| NR_174602.1:n.2792C= |