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.
Linked Data
gnomAD v4:
16-2055419-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2055419T>G , CM000678.2:g.2055419T>G | GRCh38 |
| NC_000016.9:g.2105420T>G , CM000678.1:g.2105420T>G | GRCh37 |
| NC_000016.8:g.2045421T>G | NCBI36 |
| NG_005895.1:g.11114T>G , LRG_487:g.11114T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.499T>G | ENSP00000455997.2:p.Trp167Gly | |
| ENST00000642206.2:c.544T>G | ENSP00000495146.2:p.Trp182Gly | |
| ENST00000642365.2:c.499T>G | ENSP00000495459.2:p.Trp167Gly | |
| ENST00000644417.2:c.482T>G | ENSP00000493912.2:p.Val161Gly | |
| ENST00000646464.2:c.226-561T>G | ENSP00000496610.2:n.226-561T>G | |
| ENST00000219476.9:c.499T>G MANE Select | ENSP00000219476.3:p.Trp167Gly | |
| ENST00000350773.9:c.499T>G | ENSP00000344383.4:p.Trp167Gly | |
| ENST00000401874.7:c.499T>G | ENSP00000384468.2:p.Trp167Gly | |
| ENST00000432909.3:c.273T>G | ||
| ENST00000461648.3:n.2413T>G | ||
| ENST00000568454.6:c.532T>G | ENSP00000454487.1:p.Trp178Gly | |
| ENST00000568692.2:n.1222T>G | ||
| ENST00000642561.1:c.499T>G | ENSP00000495099.1:p.Trp167Gly | |
| ENST00000642797.1:c.499T>G | ENSP00000493846.1:p.Trp167Gly | |
| ENST00000642812.1:n.556T>G | ||
| ENST00000642936.1:c.499T>G | ENSP00000494514.1:p.Trp167Gly | |
| ENST00000643088.1:c.499T>G | ENSP00000494747.1:p.Trp167Gly | |
| ENST00000643120.1:n.523T>G | ||
| ENST00000643149.1:n.1452T>G | ||
| ENST00000643298.1:c.499T>G | ENSP00000494393.1:p.Trp167Gly | |
| ENST00000643745.1:c.499T>G | ENSP00000495948.1:p.Trp167Gly | |
| ENST00000643946.1:c.499T>G | ENSP00000495927.1:p.Trp167Gly | |
| ENST00000644043.1:c.499T>G | ENSP00000496262.1:p.Trp167Gly | |
| ENST00000644135.1:c.499T>G | ENSP00000495644.1:p.Trp167Gly | |
| ENST00000644222.1:n.586T>G | ||
| ENST00000644329.1:c.499T>G | ENSP00000496611.1:p.Trp167Gly | |
| ENST00000644335.1:c.499T>G | ENSP00000496317.1:p.Trp167Gly | |
| ENST00000644399.1:c.492T>G | ||
| ENST00000644417.1:c.197T>G | ENSP00000493912.1:p.Val66Gly | |
| ENST00000644665.1:n.616T>G | ||
| ENST00000645591.1:n.1470T>G | ||
| ENST00000646388.1:c.499T>G | ENSP00000495921.1:p.Trp167Gly | |
| ENST00000646823.1:n.887T>G | ||
| ENST00000647234.1:n.1200T>G | ||
| ENST00000647242.1:n.1167T>G | ||
| ENST00000219476.7:c.499T>G | ENSP00000219476.3:p.Trp167Gly | |
| ENST00000350773.8:c.499T>G | ENSP00000344383.4:p.Trp167Gly | |
| ENST00000382538.10:c.352T>G | ENSP00000371978.6:p.Trp118Gly | |
| ENST00000401874.6:c.499T>G | ENSP00000384468.2:p.Trp167Gly | |
| ENST00000432909.2:c.273T>G | ||
| ENST00000439117.6:c.226-777T>G | ENSP00000406980.2:n.226-777T>G | |
| ENST00000439673.6:c.388T>G | ENSP00000399232.2:p.Trp130Gly | |
| ENST00000568454.5:c.532T>G | ENSP00000454487.1:p.Trp178Gly | |
| ENST00000568692.1:n.163T>G | ||
| NM_000548.3:c.499T>G , LRG_487t1:c.499T>G | NP_000539.2:p.Trp167Gly | |
| NM_001077183.1:c.499T>G | NP_001070651.1:p.Trp167Gly | |
| NM_001114382.1:c.499T>G | NP_001107854.1:p.Trp167Gly | |
| XM_005255529.3:c.499T>G | XP_005255586.2:p.Trp167Gly | |
| XM_005255531.3:c.499T>G | XP_005255588.2:p.Trp167Gly | |
| XM_011522636.1:c.499T>G | XP_011520938.1:p.Trp167Gly | |
| XM_011522637.1:c.499T>G | XP_011520939.1:p.Trp167Gly | |
| XM_011522638.1:c.388T>G | XP_011520940.1:p.Trp130Gly | |
| XM_011522639.1:c.499T>G | XP_011520941.1:p.Trp167Gly | |
| XM_011522640.1:c.499T>G | XP_011520942.1:p.Trp167Gly | |
| XM_011522641.1:c.388T>G | XP_011520943.1:p.Trp130Gly | |
| NM_000548.4:c.499T>G | NP_000539.2:p.Trp167Gly | |
| NM_001077183.2:c.499T>G | NP_001070651.1:p.Trp167Gly | |
| NM_001114382.2:c.499T>G | NP_001107854.1:p.Trp167Gly | |
| NM_001318827.1:c.388T>G | NP_001305756.1:p.Trp130Gly | |
| NM_001318829.1:c.352T>G | NP_001305758.1:p.Trp118Gly | |
| NM_001318831.1:c.-1-777T>G | NP_001305760.1:n.-1-777T>G | |
| NM_001318832.1:c.532T>G | NP_001305761.1:p.Trp178Gly | |
| NM_001363528.1:c.499T>G | NP_001350457.1:p.Trp167Gly | |
| NM_021055.2:c.499T>G | NP_066399.2:p.Trp167Gly | |
| XM_005255531.4:c.499T>G | XP_005255588.2:p.Trp167Gly | |
| XM_011522636.2:c.499T>G | XP_011520938.1:p.Trp167Gly | |
| XM_011522637.2:c.499T>G | XP_011520939.1:p.Trp167Gly | |
| XM_011522638.2:c.661T>G | XP_011520940.2:p.Trp221Gly | |
| XM_011522639.2:c.499T>G | XP_011520941.1:p.Trp167Gly | |
| XM_011522640.2:c.499T>G | XP_011520942.1:p.Trp167Gly | |
| XM_017023615.1:c.499T>G | XP_016879104.1:p.Trp167Gly | |
| XM_017023616.1:c.499T>G | XP_016879105.1:p.Trp167Gly | |
| XM_017023617.1:c.661T>G | XP_016879106.1:p.Trp221Gly | |
| XM_017023618.1:c.-933T>G | XP_016879107.1:n.-933T>G | |
| XM_024450413.1:c.499T>G | XP_024306181.1:p.Trp167Gly | |
| NM_000548.5:c.499T>G MANE Select | NP_000539.2:p.Trp167Gly | |
| NM_001370404.1:c.499T>G | NP_001357333.1:p.Trp167Gly | |
| NM_001370405.1:c.499T>G | NP_001357334.1:p.Trp167Gly | |
| NM_001077183.3:c.499T>G | NP_001070651.1:p.Trp167Gly | |
| NM_001114382.3:c.499T>G | NP_001107854.1:p.Trp167Gly | |
| NM_001318827.2:c.388T>G | NP_001305756.1:p.Trp130Gly | |
| NM_001318829.2:c.352T>G | NP_001305758.1:p.Trp118Gly | |
| NM_001318831.2:c.-1-777T>G | NP_001305760.1:n.-1-777T>G | |
| NM_001318832.2:c.532T>G | NP_001305761.1:p.Trp178Gly | |
| NM_001363528.2:c.499T>G | NP_001350457.1:p.Trp167Gly | |
| NM_021055.3:c.499T>G | NP_066399.2:p.Trp167Gly |