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_000017.11:g.46010315G= , CM000679.2:g.46010315G= | GRCh38 |
| NC_000017.10:g.44087681G= , CM000679.1:g.44087681G= | GRCh37 |
| NC_000017.9:g.41443518G= | NCBI36 |
| NG_007398.1:g.120895G= | |
| NG_007398.2:g.120853G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.741G= | ENSP00000413056.2:p.Gln247= | |
| ENST00000703922.1:c.741G= | ENSP00000515557.1:p.Gln247= | |
| ENST00000703923.1:c.654G= | ENSP00000515558.1:p.Gln218= | |
| ENST00000703924.1:c.741G= | ENSP00000515559.1:p.Gln247= | |
| ENST00000703978.1:c.828G= | ENSP00000515600.1:p.Gln276= | |
| ENST00000703979.1:n.687-3928G= | ||
| ENST00000703980.1:n.55-1G= | ||
| ENST00000262410.10:c.2004G= MANE Select | ENSP00000262410.6:p.Gln668= | |
| ENST00000344290.10:c.1801-3928G= | ENSP00000340820.6:n.1801-3928G= | |
| ENST00000351559.10:c.828G= | ENSP00000303214.7:p.Gln276= | |
| ENST00000535772.6:c.736-3928G= | ENSP00000443028.2:n.736-3928G= | |
| ENST00000680542.1:c.741G= | ENSP00000505258.1:p.Gln247= | |
| ENST00000680674.1:c.654G= | ENSP00000505478.1:p.Gln218= | |
| ENST00000262410.9:c.1779G= | ENSP00000262410.5:p.Gln593= | |
| ENST00000334239.12:c.649-3928G= | ENSP00000334886.8:n.649-3928G= | |
| ENST00000340799.9:c.741G= | ENSP00000340438.5:p.Gln247= | |
| ENST00000344290.9:c.1833G= | ENSP00000340820.5:p.Gln611= | |
| ENST00000351559.9:c.828G= | ENSP00000303214.7:p.Gln276= | |
| ENST00000415613.6:c.1833G= | ENSP00000410838.2:p.Gln611= | |
| ENST00000420682.6:c.741G= | ENSP00000413056.2:p.Gln247= | |
| ENST00000431008.7:c.823-3928G= | ENSP00000389250.3:n.823-3928G= | |
| ENST00000446361.7:c.654G= | ENSP00000408975.3:p.Gln218= | |
| ENST00000535772.5:c.823-3928G= | ENSP00000443028.1:n.823-3928G= | |
| ENST00000570299.5:n.777-8303G= | ||
| ENST00000571987.5:c.1779G= | ENSP00000458742.1:p.Gln593= | |
| ENST00000574436.5:c.828G= | ENSP00000460965.1:p.Gln276= | |
| ENST00000576518.1:n.6108-3928G= | ||
| NM_001123066.3:c.1833G= | NP_001116538.2:p.Gln611= | |
| NM_001123067.3:c.741G= | NP_001116539.1:p.Gln247= | |
| NM_001203251.1:c.736-3928G= | NP_001190180.1:n.736-3928G= | |
| NM_001203252.1:c.823-3928G= | NP_001190181.1:n.823-3928G= | |
| NM_005910.5:c.828G= | NP_005901.2:p.Gln276= | |
| NM_016834.4:c.654G= | NP_058518.1:p.Gln218= | |
| NM_016835.4:c.1779G= | NP_058519.3:p.Gln593= | |
| NM_016841.4:c.649-3928G= | NP_058525.1:n.649-3928G= | |
| XM_005257362.3:c.2091G= | XP_005257419.1:p.Gln697= | |
| XM_005257364.3:c.2004G= | XP_005257421.1:p.Gln668= | |
| XM_005257365.3:c.2086-3928G= | XP_005257422.1:n.2086-3928G= | |
| XM_005257366.2:c.1917G= | XP_005257423.1:p.Gln639= | |
| XM_005257367.3:c.1893G= | XP_005257424.1:p.Gln631= | |
| XM_005257368.3:c.1888-3928G= | XP_005257425.1:n.1888-3928G= | |
| XM_005257369.3:c.1026G= | XP_005257426.1:p.Gln342= | |
| XM_005257370.3:c.939G= | XP_005257427.1:p.Gln313= | |
| XM_005257371.3:c.852G= | XP_005257428.1:p.Gln284= | |
| XM_005257362.4:c.2091G= | XP_005257419.1:p.Gln697= | |
| XM_005257364.4:c.2004G= | XP_005257421.1:p.Gln668= | |
| XM_005257365.4:c.2086-3928G= | XP_005257422.1:n.2086-3928G= | |
| XM_005257366.3:c.1917G= | XP_005257423.1:p.Gln639= | |
| XM_005257367.4:c.1893G= | XP_005257424.1:p.Gln631= | |
| XM_005257368.4:c.1888-3928G= | XP_005257425.1:n.1888-3928G= | |
| XM_005257369.4:c.1026G= | XP_005257426.1:p.Gln342= | |
| XM_005257370.4:c.939G= | XP_005257427.1:p.Gln313= | |
| XM_005257371.4:c.852G= | XP_005257428.1:p.Gln284= | |
| NM_001203251.2:c.736-3928G= | NP_001190180.1:n.736-3928G= | |
| NM_001377265.1:c.2004G= MANE Select | NP_001364194.1:p.Gln668= | |
| NM_001377266.1:c.1801-3928G= | NP_001364195.1:n.1801-3928G= | |
| NM_001377267.1:c.736-3928G= | NP_001364196.1:n.736-3928G= | |
| NM_001377268.1:c.649-3928G= | NP_001364197.1:n.649-3928G= | |
| NM_016834.5:c.654G= | NP_058518.1:p.Gln218= | |
| NM_016841.5:c.649-3928G= | NP_058525.1:n.649-3928G= | |
| NR_165166.1:n.747-3928G= | ||
| NM_001123066.4:c.1833G= | NP_001116538.2:p.Gln611= | |
| NM_001123067.4:c.741G= | NP_001116539.1:p.Gln247= | |
| NM_001203252.2:c.823-3928G= | NP_001190181.1:n.823-3928G= | |
| NM_005910.6:c.828G= | NP_005901.2:p.Gln276= | |
| NM_016835.5:c.1779G= | NP_058519.3:p.Gln593= |