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:
15-57262044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.57262044C>T , CM000677.2:g.57262044C>T | GRCh38 |
| NC_000015.9:g.57554242C>T , CM000677.1:g.57554242C>T | GRCh37 |
| NC_000015.8:g.55341534C>T | NCBI36 |
| NG_033851.1:g.348410C>T | |
| NG_033851.2:g.348955C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333725.10:c.1468-50C>T MANE Select | ENSP00000331057.6:n.1468-50C>T | |
| ENST00000267811.9:c.1396-50C>T | ENSP00000267811.5:n.1396-50C>T | |
| ENST00000333725.9:c.1468-50C>T | ENSP00000331057.5:n.1468-50C>T | |
| ENST00000343827.7:c.886-50C>T | ENSP00000342459.3:n.886-50C>T | |
| ENST00000438423.6:c.1468-50C>T | ENSP00000388940.2:n.1468-50C>T | |
| ENST00000537840.5:c.688-50C>T | ENSP00000444696.1:n.688-50C>T | |
| ENST00000543579.5:c.958-50C>T | ENSP00000440017.1:n.958-50C>T | |
| ENST00000557843.5:c.1396-50C>T | ENSP00000453737.1:n.1396-50C>T | |
| ENST00000558210.5:n.535-50C>T | ||
| ENST00000559609.5:c.1456-50C>T | ENSP00000453876.1:n.1456-50C>T | |
| ENST00000559703.1:c.370-50C>T | ENSP00000454102.1:n.370-50C>T | |
| ENST00000559710.5:c.298-50C>T | ENSP00000453264.1:n.298-50C>T | |
| ENST00000560190.5:n.403-10986C>T | ||
| ENST00000560506.5:n.348-50C>T | ||
| ENST00000561420.5:n.394-50C>T | ||
| ENST00000561449.1:n.502-50C>T | ||
| NM_001306219.1:c.958-50C>T | NP_001293148.1:n.958-50C>T | |
| NM_001306220.1:c.688-50C>T | NP_001293149.1:n.688-50C>T | |
| NM_003205.3:c.1396-50C>T | NP_003196.1:n.1396-50C>T | |
| NM_207036.1:c.1468-50C>T | NP_996919.1:n.1468-50C>T | |
| NM_207037.1:c.1468-50C>T | NP_996920.1:n.1468-50C>T | |
| NM_207038.1:c.1396-50C>T | NP_996921.1:n.1396-50C>T | |
| NM_207040.1:c.886-50C>T | NP_996923.1:n.886-50C>T | |
| XM_005254613.3:c.1294-50C>T | XP_005254670.1:n.1294-50C>T | |
| XM_011521959.1:c.1504-50C>T | XP_011520261.1:n.1504-50C>T | |
| XM_011521960.1:c.1504-50C>T | XP_011520262.1:n.1504-50C>T | |
| XM_011521961.1:c.1504-50C>T | XP_011520263.1:n.1504-50C>T | |
| XM_011521962.1:c.1432-50C>T | XP_011520264.1:n.1432-50C>T | |
| XM_011521963.1:c.1432-50C>T | XP_011520265.1:n.1432-50C>T | |
| XM_011521965.1:c.820-50C>T | XP_011520267.1:n.820-50C>T | |
| XM_011521966.1:c.760-50C>T | XP_011520268.1:n.760-50C>T | |
| XM_011521967.1:c.748-50C>T | XP_011520269.1:n.748-50C>T | |
| XM_011521969.1:c.886-50C>T | XP_011520271.1:n.886-50C>T | |
| NM_001306219.2:c.958-50C>T | NP_001293148.1:n.958-50C>T | |
| NM_001306220.2:c.688-50C>T | NP_001293149.1:n.688-50C>T | |
| NM_001322151.1:c.1468-50C>T | NP_001309080.1:n.1468-50C>T | |
| NM_001322152.1:c.1468-50C>T | NP_001309081.1:n.1468-50C>T | |
| NM_001322154.1:c.811-50C>T | NP_001309083.1:n.811-50C>T | |
| NM_001322156.1:c.1294-50C>T | NP_001309085.1:n.1294-50C>T | |
| NM_001322157.1:c.1396-50C>T | NP_001309086.1:n.1396-50C>T | |
| NM_001322158.1:c.1222-50C>T | NP_001309087.1:n.1222-50C>T | |
| NM_001322159.1:c.1468-50C>T | NP_001309088.1:n.1468-50C>T | |
| NM_001322161.1:c.1465-50C>T | NP_001309090.1:n.1465-50C>T | |
| NM_001322162.1:c.1468-50C>T | NP_001309091.1:n.1468-50C>T | |
| NM_001322164.1:c.1432-50C>T | NP_001309093.1:n.1432-50C>T | |
| NM_001322165.1:c.1396-50C>T | NP_001309094.1:n.1396-50C>T | |
| XM_011521959.3:c.1504-50C>T | XP_011520261.1:n.1504-50C>T | |
| XM_011521960.3:c.1504-50C>T | XP_011520262.1:n.1504-50C>T | |
| XM_011521961.3:c.1504-50C>T | XP_011520263.1:n.1504-50C>T | |
| XM_011521962.3:c.1432-50C>T | XP_011520264.1:n.1432-50C>T | |
| XM_011521963.3:c.1432-50C>T | XP_011520265.1:n.1432-50C>T | |
| XM_011521965.2:c.820-50C>T | XP_011520267.1:n.820-50C>T | |
| XM_011521966.2:c.760-50C>T | XP_011520268.1:n.760-50C>T | |
| XM_011521967.2:c.748-50C>T | XP_011520269.1:n.748-50C>T | |
| XM_017022520.2:c.1396-50C>T | XP_016878009.1:n.1396-50C>T | |
| NM_001306219.3:c.958-50C>T | NP_001293148.1:n.958-50C>T | |
| NM_001306220.3:c.688-50C>T | NP_001293149.1:n.688-50C>T | |
| NM_001322152.2:c.1468-50C>T | NP_001309081.1:n.1468-50C>T | |
| NM_001322154.2:c.811-50C>T | NP_001309083.1:n.811-50C>T | |
| NM_001322156.2:c.1294-50C>T | NP_001309085.1:n.1294-50C>T | |
| NM_001322157.2:c.1396-50C>T | NP_001309086.1:n.1396-50C>T | |
| NM_001322158.2:c.1222-50C>T | NP_001309087.1:n.1222-50C>T | |
| NM_001322159.2:c.1468-50C>T | NP_001309088.1:n.1468-50C>T | |
| NM_001322161.2:c.1465-50C>T | NP_001309090.1:n.1465-50C>T | |
| NM_001322162.2:c.1468-50C>T | NP_001309091.1:n.1468-50C>T | |
| NM_001322164.2:c.1432-50C>T | NP_001309093.1:n.1432-50C>T | |
| NM_001322165.2:c.1396-50C>T | NP_001309094.1:n.1396-50C>T | |
| NM_003205.4:c.1396-50C>T | NP_003196.1:n.1396-50C>T | |
| NM_207036.2:c.1468-50C>T | NP_996919.1:n.1468-50C>T | |
| NM_207037.2:c.1468-50C>T MANE Select | NP_996920.1:n.1468-50C>T | |
| NM_207038.2:c.1396-50C>T | NP_996921.1:n.1396-50C>T | |
| NM_207040.2:c.886-50C>T | NP_996923.1:n.886-50C>T | |
| NM_001322151.2:c.1468-50C>T | NP_001309080.1:n.1468-50C>T | |
| NM_001322157.3:c.1396-50C>T | NP_001309086.1:n.1396-50C>T | |
| NM_001322159.3:c.1468-50C>T | NP_001309088.1:n.1468-50C>T |