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.87518719T= , CM000668.2:g.87518719T= | GRCh38 |
| NC_000006.11:g.88228437T= , CM000668.1:g.88228437T= | GRCh37 |
| NC_000006.10:g.88285156T= | NCBI36 |
| NG_008601.1:g.76299A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000451155.2:c.801A= | ENSP00000389656.2:p.Leu267= | |
| ENST00000493269.2:n.1346A= | ||
| ENST00000497828.2:n.3521A= | ||
| ENST00000684790.1:c.*332A= | ENSP00000509974.1:n.*332A= | |
| ENST00000685069.1:c.387A= | ENSP00000509876.1:p.Leu129= | |
| ENST00000685219.1:n.1362A= | ||
| ENST00000685336.1:c.*749A= | ENSP00000508757.1:n.*749A= | |
| ENST00000685376.1:c.*448A= | ENSP00000508661.1:n.*448A= | |
| ENST00000685408.1:c.801A= | ENSP00000509026.1:p.Leu267= | |
| ENST00000685701.1:c.387A= | ENSP00000509573.1:p.Leu129= | |
| ENST00000685881.1:c.801A= | ENSP00000510572.1:p.Leu267= | |
| ENST00000686142.1:c.801A= | ENSP00000510793.1:p.Leu267= | |
| ENST00000686154.1:c.387A= | ENSP00000508436.1:p.Leu129= | |
| ENST00000686196.1:n.1571A= | ||
| ENST00000686284.1:c.387A= | ENSP00000510099.1:p.Leu129= | |
| ENST00000686371.1:n.828A= | ||
| ENST00000686407.1:c.387A= | ENSP00000509880.1:p.Leu129= | |
| ENST00000686857.1:c.*242A= | ENSP00000509934.1:n.*242A= | |
| ENST00000686988.1:c.1424A= | ENSP00000508830.1:n.1424A= | |
| ENST00000687090.1:n.1691A= | ||
| ENST00000687437.1:c.1326A= | ENSP00000508968.1:p.Leu442= | |
| ENST00000687579.1:c.*372A= | ENSP00000510257.1:n.*372A= | |
| ENST00000687586.1:c.249A= | ENSP00000508441.1:p.Leu83= | |
| ENST00000687729.1:c.781-37A= | ENSP00000508582.1:n.781-37A= | |
| ENST00000687909.1:c.*736A= | ENSP00000508659.1:n.*736A= | |
| ENST00000688106.1:c.387A= | ENSP00000509529.1:p.Leu129= | |
| ENST00000688391.1:n.1834A= | ||
| ENST00000688532.1:c.249A= | ENSP00000510320.1:p.Leu83= | |
| ENST00000688808.1:n.1832A= | ||
| ENST00000688842.1:n.3800A= | ||
| ENST00000689174.1:c.801A= | ENSP00000510542.1:p.Leu267= | |
| ENST00000689206.1:c.387A= | ENSP00000510495.1:p.Leu129= | |
| ENST00000689561.1:n.2342A= | ||
| ENST00000689594.1:n.2318A= | ||
| ENST00000689952.1:c.*664A= | ENSP00000508977.1:n.*664A= | |
| ENST00000690205.1:c.*1204A= | ENSP00000508972.1:n.*1204A= | |
| ENST00000690622.1:c.387A= | ENSP00000508528.1:p.Leu129= | |
| ENST00000690705.1:c.*242A= | ENSP00000509923.1:n.*242A= | |
| ENST00000690884.1:c.*242A= | ENSP00000509931.1:n.*242A= | |
| ENST00000691205.1:n.2292A= | ||
| ENST00000691238.1:c.*448A= | ENSP00000510094.1:n.*448A= | |
| ENST00000691533.1:n.1362A= | ||
| ENST00000691634.1:n.1207A= | ||
| ENST00000691725.1:c.1326A= | ENSP00000509453.1:p.Leu442= | |
| ENST00000691815.1:c.*242A= | ENSP00000509579.1:n.*242A= | |
| ENST00000692270.1:c.*242A= | ENSP00000510055.1:n.*242A= | |
| ENST00000692394.1:c.105A= | ENSP00000509567.1:p.Leu35= | |
| ENST00000692684.1:c.801A= | ENSP00000509712.1:p.Leu267= | |
| ENST00000692843.1:c.*313A= | ENSP00000509592.1:n.*313A= | |
| ENST00000693327.1:c.801A= | ENSP00000509195.1:p.Leu267= | |
| ENST00000693431.1:c.801A= | ENSP00000509147.1:p.Leu267= | |
| ENST00000693605.1:c.*242A= | ENSP00000510050.1:n.*242A= | |
| ENST00000369536.10:c.1326A= MANE Select | ENSP00000358549.5:p.Leu442= | |
| ENST00000369536.9:c.1326A= | ENSP00000358549.5:p.Leu442= | |
| ENST00000497828.1:n.429A= | ||
| NM_020320.3:c.1326A= | NP_064716.2:p.Leu442= | |
| XM_005248735.3:c.801A= | XP_005248792.2:p.Leu267= | |
| XM_005248736.3:c.801A= | XP_005248793.2:p.Leu267= | |
| XM_005248737.3:c.801A= | XP_005248794.2:p.Leu267= | |
| XM_011535947.1:c.1326A= | XP_011534249.1:p.Leu442= | |
| XM_011535948.1:c.1326A= | XP_011534250.1:p.Leu442= | |
| XM_011535949.1:c.1326A= | XP_011534251.1:p.Leu442= | |
| XM_011535950.1:c.801A= | XP_011534252.1:p.Leu267= | |
| XM_011535951.1:c.801A= | XP_011534253.1:p.Leu267= | |
| XM_011535952.1:c.387A= | XP_011534254.1:p.Leu129= | |
| XM_011535953.1:c.387A= | XP_011534255.1:p.Leu129= | |
| XM_011535954.1:c.387A= | XP_011534256.1:p.Leu129= | |
| XM_011535955.1:c.387A= | XP_011534257.1:p.Leu129= | |
| XR_241848.1:n.1382A= | ||
| NM_001318785.1:c.801A= | NP_001305714.1:p.Leu267= | |
| NM_001350505.1:c.1326A= | NP_001337434.1:p.Leu442= | |
| NM_001350506.1:c.801A= | NP_001337435.1:p.Leu267= | |
| NM_001350507.1:c.801A= | NP_001337436.1:p.Leu267= | |
| NM_001350508.1:c.801A= | NP_001337437.1:p.Leu267= | |
| NM_001350509.1:c.801A= | NP_001337438.1:p.Leu267= | |
| NM_001350510.1:c.801A= | NP_001337439.1:p.Leu267= | |
| NM_001350511.1:c.801A= | NP_001337440.1:p.Leu267= | |
| NM_020320.4:c.1326A= | NP_064716.2:p.Leu442= | |
| NR_134857.1:n.1397A= | ||
| NR_146738.1:n.1669A= | ||
| NR_146739.1:n.1478A= | ||
| NR_146740.1:n.1746A= | ||
| NR_146741.1:n.1408A= | ||
| NR_146742.1:n.1780A= | ||
| NR_146743.1:n.1618A= | ||
| NR_146744.1:n.1746A= | ||
| NR_146745.1:n.1405A= | ||
| NR_146746.1:n.1840A= | ||
| NR_146747.1:n.1184A= | ||
| NR_146748.1:n.1644A= | ||
| NR_146749.1:n.1618A= | ||
| NR_146750.1:n.1742A= | ||
| NR_146751.1:n.1622A= | ||
| NR_146752.1:n.1686A= | ||
| NR_146753.1:n.1538A= | ||
| NR_146754.1:n.1482A= | ||
| NR_146755.1:n.1746A= | ||
| NR_146756.1:n.1401A= | ||
| NR_146757.1:n.1672A= | ||
| NR_146758.1:n.1401A= | ||
| NR_146759.1:n.1401A= | ||
| XM_011535949.3:c.1326A= | XP_011534251.1:p.Leu442= | |
| XM_017011073.1:c.801A= | XP_016866562.1:p.Leu267= | |
| XM_017011074.2:c.801A= | XP_016866563.1:p.Leu267= | |
| XM_017011075.2:c.801A= | XP_016866564.1:p.Leu267= | |
| XM_017011076.2:c.801A= | XP_016866565.1:p.Leu267= | |
| XM_017011077.2:c.801A= | XP_016866566.1:p.Leu267= | |
| XM_017011078.2:c.801A= | XP_016866567.1:p.Leu267= | |
| XM_024446494.1:c.801A= | XP_024302262.1:p.Leu267= | |
| NM_020320.5:c.1326A= MANE Select | NP_064716.2:p.Leu442= | |
| NM_001318785.2:c.801A= | NP_001305714.1:p.Leu267= | |
| NM_001350505.2:c.1326A= | NP_001337434.1:p.Leu442= | |
| NM_001350506.2:c.801A= | NP_001337435.1:p.Leu267= | |
| NM_001350507.2:c.801A= | NP_001337436.1:p.Leu267= | |
| NM_001350508.2:c.801A= | NP_001337437.1:p.Leu267= | |
| NM_001350509.2:c.801A= | NP_001337438.1:p.Leu267= | |
| NM_001350510.2:c.801A= | NP_001337439.1:p.Leu267= | |
| NM_001350511.2:c.801A= | NP_001337440.1:p.Leu267= | |
| NR_134857.2:n.1352A= | ||
| NR_146738.2:n.1624A= | ||
| NR_146739.2:n.1433A= | ||
| NR_146740.2:n.1701A= | ||
| NR_146741.2:n.1363A= | ||
| NR_146742.2:n.1735A= | ||
| NR_146743.2:n.1573A= | ||
| NR_146744.2:n.1701A= | ||
| NR_146745.2:n.1360A= | ||
| NR_146746.2:n.1795A= | ||
| NR_146747.2:n.1139A= | ||
| NR_146748.2:n.1599A= | ||
| NR_146749.2:n.1573A= | ||
| NR_146750.2:n.1697A= | ||
| NR_146751.2:n.1577A= | ||
| NR_146752.2:n.1641A= | ||
| NR_146753.2:n.1493A= | ||
| NR_146754.2:n.1437A= | ||
| NR_146755.2:n.1701A= | ||
| NR_146756.2:n.1356A= | ||
| NR_146757.2:n.1627A= | ||
| NR_146758.2:n.1356A= | ||
| NR_146759.2:n.1356A= |