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_000007.14:g.152148681G= , CM000669.2:g.152148681G= | GRCh38 |
| NC_000007.13:g.151845766G= , CM000669.1:g.151845766G= | GRCh37 |
| NC_000007.12:g.151476699G= | NCBI36 |
| NG_033948.1:g.292325C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682040.1:c.1434C= | ||
| ENST00000682116.1:n.2378C= | ||
| ENST00000682283.1:c.13417C= | ENSP00000507485.1:p.Pro4473= | |
| ENST00000682629.1:n.2546C= | ||
| ENST00000683120.1:n.8438C= | ||
| ENST00000683178.1:c.3819C= | ||
| ENST00000683200.1:c.10756C= | ENSP00000508052.1:p.Pro3586= | |
| ENST00000683337.1:n.4876C= | ||
| ENST00000683502.1:c.3891C= | ||
| ENST00000683621.1:n.2012C= | ||
| ENST00000683640.1:n.1962C= | ||
| ENST00000684069.1:c.1663C= | ENSP00000507650.1:p.Pro555= | |
| ENST00000684261.1:c.8143C= | ENSP00000508097.1:p.Pro2715= | |
| ENST00000684391.1:n.4C= | ||
| ENST00000684649.1:c.3891C= | ||
| ENST00000262189.11:c.13246C= MANE Select | ENSP00000262189.6:p.Pro4416= | |
| ENST00000360104.8:c.9033C= | ||
| ENST00000418061.2:c.3888C= | ||
| ENST00000424877.6:c.3822C= | ||
| ENST00000679393.1:n.7957C= | ||
| ENST00000679560.1:c.8146C= | ENSP00000505094.1:p.Pro2716= | |
| ENST00000679882.1:c.12811C= | ENSP00000506154.1:p.Pro4271= | |
| ENST00000680029.1:c.3823C= | ||
| ENST00000680877.1:c.8146C= | ENSP00000505724.1:p.Pro2716= | |
| ENST00000681923.1:n.2261C= | ||
| ENST00000262189.10:c.13246C= | ENSP00000262189.6:p.Pro4416= | |
| ENST00000355193.6:c.13246C= | ENSP00000347325.3:p.Pro4416= | |
| ENST00000360104.7:c.5927C= | ||
| ENST00000424877.5:c.3097C= | ENSP00000410411.1:p.Pro1033= | |
| ENST00000473186.5:n.11128C= | ||
| ENST00000558084.5:c.*10766C= | ENSP00000453752.1:n.*10766C= | |
| NM_170606.2:c.13246C= | NP_733751.2:p.Pro4416= | |
| XM_005250025.3:c.13462C= | XP_005250082.1:p.Pro4488= | |
| XM_005250026.2:c.13459C= | XP_005250083.1:p.Pro4487= | |
| XM_005250027.3:c.13459C= | XP_005250084.1:p.Pro4487= | |
| XM_005250028.3:c.13462C= | XP_005250085.1:p.Pro4488= | |
| XM_005250031.3:c.13297C= | XP_005250088.1:p.Pro4433= | |
| XM_006716077.2:c.13459C= | XP_006716140.1:p.Pro4487= | |
| XM_006716078.2:c.13390C= | XP_006716141.1:p.Pro4464= | |
| XM_006716079.2:c.13294C= | XP_006716142.1:p.Pro4432= | |
| XM_011516450.1:c.13414C= | XP_011514752.1:p.Pro4472= | |
| XM_011516451.1:c.13342C= | XP_011514753.1:p.Pro4448= | |
| XM_011516452.1:c.13309C= | XP_011514754.1:p.Pro4437= | |
| XM_011516453.1:c.13225C= | XP_011514755.1:p.Pro4409= | |
| XM_011516454.1:c.12547C= | XP_011514756.1:p.Pro4183= | |
| XM_011516455.1:c.11008C= | XP_011514757.1:p.Pro3670= | |
| XM_011516456.1:c.13414C= | XP_011514758.1:p.Pro4472= | |
| XM_005250025.4:c.13462C= | XP_005250082.1:p.Pro4488= | |
| XM_005250026.3:c.13459C= | XP_005250083.1:p.Pro4487= | |
| XM_005250027.4:c.13459C= | XP_005250084.1:p.Pro4487= | |
| XM_005250028.4:c.13462C= | XP_005250085.1:p.Pro4488= | |
| XM_005250031.4:c.13297C= | XP_005250088.1:p.Pro4433= | |
| XM_006716077.3:c.13459C= | XP_006716140.1:p.Pro4487= | |
| XM_006716078.3:c.13390C= | XP_006716141.1:p.Pro4464= | |
| XM_006716079.3:c.13294C= | XP_006716142.1:p.Pro4432= | |
| XM_011516450.2:c.13414C= | XP_011514752.1:p.Pro4472= | |
| XM_011516451.2:c.13342C= | XP_011514753.1:p.Pro4448= | |
| XM_011516452.2:c.13309C= | XP_011514754.1:p.Pro4437= | |
| XM_011516453.2:c.13225C= | XP_011514755.1:p.Pro4409= | |
| XM_011516454.2:c.12547C= | XP_011514756.1:p.Pro4183= | |
| XM_011516456.2:c.13414C= | XP_011514758.1:p.Pro4472= | |
| XM_017012480.1:c.13462C= | XP_016867969.1:p.Pro4488= | |
| XM_017012481.1:c.13459C= | XP_016867970.1:p.Pro4487= | |
| XM_017012482.1:c.13459C= | XP_016867971.1:p.Pro4487= | |
| XM_017012483.1:c.13459C= | XP_016867972.1:p.Pro4487= | |
| XM_017012484.1:c.13429C= | XP_016867973.1:p.Pro4477= | |
| XM_017012485.1:c.13411C= | XP_016867974.1:p.Pro4471= | |
| XM_017012486.1:c.13387C= | XP_016867975.1:p.Pro4463= | |
| XM_017012487.1:c.13315C= | XP_016867976.1:p.Pro4439= | |
| XM_017012488.1:c.13279C= | XP_016867977.1:p.Pro4427= | |
| XM_017012489.1:c.10132C= | XP_016867978.1:p.Pro3378= | |
| XM_017012490.2:c.9736C= | XP_016867979.1:p.Pro3246= | |
| XM_024446852.1:c.13459C= | XP_024302620.1:p.Pro4487= | |
| XM_024446853.1:c.13387C= | XP_024302621.1:p.Pro4463= | |
| NM_170606.3:c.13246C= MANE Select | NP_733751.2:p.Pro4416= |