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.5973219A= , CM000669.2:g.5973219A= | GRCh38 |
| NC_000007.13:g.6012850A= , CM000669.1:g.6012850A= | GRCh37 |
| NC_000007.12:g.5979376A= | NCBI36 |
| NG_008466.1:g.40888T= , LRG_161:g.40888T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*2165T= | ENSP00000514615.2:n.*2165T= | |
| ENST00000699930.2:c.*180T= | ENSP00000514695.2:n.*180T= | |
| ENST00000699752.1:c.*180T= | ENSP00000514561.1:n.*180T= | |
| ENST00000699753.1:c.*2190T= | ENSP00000514562.1:n.*2190T= | |
| ENST00000699754.1:c.*180T= | ENSP00000514563.1:n.*180T= | |
| ENST00000699755.1:c.*2168T= | ENSP00000514564.1:n.*2168T= | |
| ENST00000699756.1:c.*2356T= | ENSP00000514565.1:n.*2356T= | |
| ENST00000699757.1:c.*2026T= | ENSP00000514566.1:n.*2026T= | |
| ENST00000699758.1:c.*2026T= | ENSP00000514567.1:n.*2026T= | |
| ENST00000699759.1:n.3623T= | ||
| ENST00000699760.1:c.*180T= | ENSP00000514568.1:n.*180T= | |
| ENST00000699761.1:c.*180T= | ENSP00000514569.1:n.*180T= | |
| ENST00000699762.1:c.*180T= | ENSP00000514570.1:n.*180T= | |
| ENST00000699763.1:c.*1859T= | ENSP00000514571.1:n.*1859T= | |
| ENST00000699764.1:c.*1087T= | ENSP00000514572.1:n.*1087T= | |
| ENST00000699765.1:c.*1764T= | ENSP00000514573.1:n.*1764T= | |
| ENST00000699766.1:c.*180T= | ENSP00000514574.1:n.*180T= | |
| ENST00000699767.1:c.*410T= | ENSP00000514575.1:n.*410T= | |
| ENST00000699768.1:c.*180T= | ENSP00000514576.1:n.*180T= | |
| ENST00000699811.1:c.*180T= | ENSP00000514614.1:n.*180T= | |
| ENST00000699813.1:n.2882T= | ||
| ENST00000699814.1:c.2392T= | ||
| ENST00000699815.1:c.*2300T= | ENSP00000514616.1:n.*2300T= | |
| ENST00000699816.1:c.*1659T= | ENSP00000514617.1:n.*1659T= | |
| ENST00000699817.1:c.*2363T= | ENSP00000514618.1:n.*2363T= | |
| ENST00000699818.1:c.*180T= | ENSP00000514619.1:n.*180T= | |
| ENST00000699819.1:c.*1926T= | ENSP00000514620.1:n.*1926T= | |
| ENST00000699820.1:c.*707T= | ENSP00000514621.1:n.*707T= | |
| ENST00000699821.1:c.*180T= | ENSP00000514622.1:n.*180T= | |
| ENST00000699833.1:n.4541T= | ||
| ENST00000699838.1:c.*2669T= | ENSP00000514636.1:n.*2669T= | |
| ENST00000699839.1:c.*180T= | ENSP00000514637.1:n.*180T= | |
| ENST00000699916.1:c.*2026T= | ENSP00000514684.1:n.*2026T= | |
| ENST00000699917.1:c.*2218T= | ENSP00000514685.1:n.*2218T= | |
| ENST00000699918.1:c.*2270T= | ENSP00000514686.1:n.*2270T= | |
| ENST00000699919.1:c.*2356T= | ENSP00000514687.1:n.*2356T= | |
| ENST00000699920.1:c.*2405T= | ENSP00000514688.1:n.*2405T= | |
| ENST00000699928.1:c.*707T= | ENSP00000514693.1:n.*707T= | |
| ENST00000265849.12:c.*180T= MANE Select | ENSP00000265849.7:n.*180T= | |
| XM_006715742.2:c.*180T= | XP_006715805.1:n.*180T= | |
| XM_006715744.2:c.*180T= | XP_006715807.1:n.*180T= | |
| XM_011515427.1:c.*180T= | XP_011513729.1:n.*180T= | |
| XM_011515428.1:c.*180T= | XP_011513730.1:n.*180T= | |
| XM_011515429.1:c.*180T= | XP_011513731.1:n.*180T= | |
| XM_011515430.1:c.*180T= | XP_011513732.1:n.*180T= | |
| NM_000535.6:c.*180T= | NP_000526.2:n.*180T= | |
| NM_001322003.1:c.*180T= | NP_001308932.1:n.*180T= | |
| NM_001322004.1:c.*180T= | NP_001308933.1:n.*180T= | |
| NM_001322005.1:c.*180T= | NP_001308934.1:n.*180T= | |
| NM_001322006.1:c.*180T= | NP_001308935.1:n.*180T= | |
| NM_001322007.1:c.*180T= | NP_001308936.1:n.*180T= | |
| NM_001322008.1:c.*180T= | NP_001308937.1:n.*180T= | |
| NM_001322009.1:c.*180T= | NP_001308938.1:n.*180T= | |
| NM_001322010.1:c.*180T= | NP_001308939.1:n.*180T= | |
| NM_001322011.1:c.*180T= | NP_001308940.1:n.*180T= | |
| NM_001322012.1:c.*180T= | NP_001308941.1:n.*180T= | |
| NM_001322013.1:c.*180T= | NP_001308942.1:n.*180T= | |
| NM_001322014.1:c.*180T= | NP_001308943.1:n.*180T= | |
| NM_001322015.1:c.*180T= | NP_001308944.1:n.*180T= | |
| NR_136154.1:n.2813T= | ||
| XM_006715744.4:c.*180T= | XP_006715807.1:n.*180T= | |
| XM_017012342.2:c.*180T= | XP_016867831.1:n.*180T= | |
| XM_024446800.1:c.*180T= | XP_024302568.1:n.*180T= | |
| NM_000535.7:c.*180T= MANE Select | NP_000526.2:n.*180T= | |
| NM_001322003.2:c.*180T= | NP_001308932.1:n.*180T= | |
| NM_001322004.2:c.*180T= | NP_001308933.1:n.*180T= | |
| NM_001322005.2:c.*180T= | NP_001308934.1:n.*180T= | |
| NM_001322006.2:c.*180T= | NP_001308935.1:n.*180T= | |
| NM_001322008.2:c.*180T= | NP_001308937.1:n.*180T= | |
| NM_001322009.2:c.*180T= | NP_001308938.1:n.*180T= | |
| NM_001322010.2:c.*180T= | NP_001308939.1:n.*180T= | |
| NM_001322011.2:c.*180T= | NP_001308940.1:n.*180T= | |
| NM_001322012.2:c.*180T= | NP_001308941.1:n.*180T= | |
| NM_001322013.2:c.*180T= | NP_001308942.1:n.*180T= | |
| NM_001322014.2:c.*180T= | NP_001308943.1:n.*180T= | |
| NM_001322015.2:c.*180T= | NP_001308944.1:n.*180T= | |
| NM_001322007.2:c.*180T= | NP_001308936.1:n.*180T= |