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_000012.12:g.48141804C= , CM000674.2:g.48141804C= | GRCh38 |
| NC_000012.11:g.48535587C= , CM000674.1:g.48535587C= | GRCh37 |
| NC_000012.10:g.46821854C= | NCBI36 |
| NG_016199.1:g.40932C= | |
| NG_016199.2:g.41552C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000550257.7:c.1699C= | ENSP00000447997.3:p.Leu567= | |
| ENST00000340802.12:c.1690C= | ENSP00000345771.6:p.Leu564= | |
| ENST00000359794.11:c.1477C= MANE Select | ENSP00000352842.5:p.Leu493= | |
| ENST00000549941.7:c.1384C= | ENSP00000446829.3:p.Leu462= | |
| ENST00000550345.6:c.1477C= | ENSP00000450369.2:p.Leu493= | |
| ENST00000550924.6:c.1477C= | ENSP00000446945.2:p.Leu493= | |
| ENST00000551339.6:c.1477C= | ENSP00000448253.2:p.Leu493= | |
| ENST00000642730.1:c.1786C= | ENSP00000496597.1:p.Leu596= | |
| ENST00000312352.11:c.1477C= | ENSP00000309438.7:p.Leu493= | |
| ENST00000340802.10:c.1690C= | ENSP00000345771.6:p.Leu564= | |
| ENST00000359794.9:c.1477C= | ENSP00000352842.5:p.Leu493= | |
| ENST00000546465.1:c.322C= | ENSP00000446519.1:p.Leu108= | |
| ENST00000546964.5:n.1801C= | ||
| ENST00000547581.5:c.*1745C= | ENSP00000447992.1:n.*1745C= | |
| ENST00000547587.5:c.1477C= | ENSP00000449426.1:p.Leu493= | |
| ENST00000550802.1:n.109C= | ||
| ENST00000551804.5:c.1384C= | ENSP00000448177.1:p.Leu462= | |
| ENST00000552214.1:n.133C= | ||
| ENST00000552752.5:c.626C= | ||
| ENST00000552818.1:n.100C= | ||
| NM_000289.5:c.1477C= | NP_000280.1:p.Leu493= | |
| NM_001166686.1:c.1690C= | NP_001160158.1:p.Leu564= | |
| NM_001166687.1:c.1477C= | NP_001160159.1:p.Leu493= | |
| NM_001166688.1:c.1477C= | NP_001160160.1:p.Leu493= | |
| XM_005268974.1:c.1786C= | XP_005269031.1:p.Leu596= | |
| XM_005268975.1:c.1786C= | XP_005269032.1:p.Leu596= | |
| XM_005268976.2:c.1786C= | XP_005269033.1:p.Leu596= | |
| XM_005268977.1:c.1690C= | XP_005269034.1:p.Leu564= | |
| XM_005268978.2:c.1690C= | XP_005269035.1:p.Leu564= | |
| XM_005268979.1:c.1690C= | XP_005269036.1:p.Leu564= | |
| XM_011538487.1:c.1693C= | XP_011536789.1:p.Leu565= | |
| XM_011538488.1:c.1477C= | XP_011536790.1:p.Leu493= | |
| NM_000289.6:c.1477C= MANE Select | NP_000280.1:p.Leu493= | |
| NM_001166686.2:c.1690C= | NP_001160158.1:p.Leu564= | |
| NM_001354735.1:c.1786C= | NP_001341664.1:p.Leu596= | |
| NM_001354736.1:c.1786C= | NP_001341665.1:p.Leu596= | |
| NM_001354737.1:c.1690C= | NP_001341666.1:p.Leu564= | |
| NM_001354738.1:c.1690C= | NP_001341667.1:p.Leu564= | |
| NM_001354739.1:c.1690C= | NP_001341668.1:p.Leu564= | |
| NM_001354740.1:c.1621C= | NP_001341669.1:p.Leu541= | |
| NM_001354741.1:c.1501C= | NP_001341670.1:p.Leu501= | |
| NM_001354742.1:c.1477C= | NP_001341671.1:p.Leu493= | |
| NM_001354743.1:c.1477C= | NP_001341672.1:p.Leu493= | |
| NM_001354744.1:c.1477C= | NP_001341673.1:p.Leu493= | |
| NM_001354745.1:c.1390C= | NP_001341674.1:p.Leu464= | |
| NM_001354746.1:c.1351C= | NP_001341675.1:p.Leu451= | |
| NM_001354747.1:c.1327C= | NP_001341676.1:p.Leu443= | |
| NM_001354748.1:c.1327C= | NP_001341677.1:p.Leu443= | |
| NM_001363619.1:c.1384C= | NP_001350548.1:p.Leu462= | |
| NR_148954.1:n.1914C= | ||
| NR_148955.1:n.2550C= | ||
| NR_148956.1:n.1840C= | ||
| NR_148957.1:n.2069C= | ||
| NR_148958.1:n.1817C= | ||
| NR_148959.1:n.1743C= | ||
| XM_005268976.3:c.1786C= | XP_005269033.1:p.Leu596= | |
| XM_017019469.1:c.1597C= | XP_016874958.1:p.Leu533= | |
| XM_024449020.1:c.1699C= | XP_024304788.1:p.Leu567= | |
| XM_024449021.1:c.1576C= | XP_024304789.1:p.Leu526= | |
| XM_024449022.1:c.1477C= | XP_024304790.1:p.Leu493= | |
| NM_001166687.2:c.1477C= | NP_001160159.1:p.Leu493= | |
| NM_001166688.2:c.1477C= | NP_001160160.1:p.Leu493= | |
| NM_001354741.2:c.1501C= | NP_001341670.1:p.Leu501= | |
| NM_001354742.2:c.1477C= | NP_001341671.1:p.Leu493= | |
| NM_001354743.2:c.1477C= | NP_001341672.1:p.Leu493= | |
| NM_001354744.2:c.1477C= | NP_001341673.1:p.Leu493= | |
| NM_001354745.2:c.1390C= | NP_001341674.1:p.Leu464= | |
| NM_001354746.2:c.1351C= | NP_001341675.1:p.Leu451= | |
| NM_001354747.2:c.1327C= | NP_001341676.1:p.Leu443= | |
| NM_001354748.2:c.1327C= | NP_001341677.1:p.Leu443= | |
| NM_001363619.2:c.1384C= | NP_001350548.1:p.Leu462= | |
| NR_148954.2:n.1780C= | ||
| NR_148956.2:n.1706C= | ||
| NR_148957.2:n.1935C= | ||
| NR_148958.2:n.1683C= | ||
| NR_148959.2:n.1609C= |