Linked Data
ClinVar Variation Id:
382581
dbSNP Id:
rs1047747
ExAC:
16:5134829 C / T
gnomAD v2:
16-5134829-C-T
gnomAD v3:
16-5084828-C-T
gnomAD v4:
16-5084828-C-T
COSMIC:
COSM3719831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5084828C>T , CM000678.2:g.5084828C>T | GRCh38 |
| NC_000016.9:g.5134829C>T , CM000678.1:g.5134829C>T | GRCh37 |
| NC_000016.8:g.5074830C>T | NCBI36 |
| NG_009202.1:g.18020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3478C>T (ALG1) | ||
| ENST00000682020.1:c.748C>T (ALG1) | ENSP00000508075.1:p.Arg250Ter | |
| ENST00000682206.1:c.*437C>T (ALG1) | ENSP00000508285.1:n.*437C>T | |
| ENST00000682314.1:n.2398C>T (ALG1) | ||
| ENST00000682327.1:c.814C>T (ALG1) | ENSP00000507058.1:p.Arg272Ter | |
| ENST00000682349.1:n.3484C>T (ALG1) | ||
| ENST00000682703.1:n.5318C>T (ALG1) | ||
| ENST00000682797.1:c.*434C>T (ALG1) | ENSP00000507582.1:n.*434C>T | |
| ENST00000682985.1:c.853C>T (ALG1) | ENSP00000507598.1:p.Arg285Ter | |
| ENST00000683433.1:c.601C>T (ALG1) | ENSP00000507463.1:p.Arg201Ter | |
| ENST00000683685.1:n.3224C>T (ALG1) | ||
| ENST00000683710.1:c.*1309C>T (ALG1) | ENSP00000506785.1:n.*1309C>T | |
| ENST00000683739.1:c.1009C>T (ALG1) | ENSP00000507002.1:p.Arg337Ter | |
| ENST00000683772.1:n.2394C>T (ALG1) | ||
| ENST00000684008.1:c.1280C>T (ALG1) | ENSP00000507962.1:n.1280C>T | |
| ENST00000684190.1:c.1303C>T (ALG1) | ENSP00000507554.1:p.Arg435Ter | |
| ENST00000684335.1:c.1231C>T (ALG1) | ENSP00000508112.1:p.Arg411Ter | |
| ENST00000262374.10:c.1342C>T (ALG1) MANE Select | ENSP00000262374.5:p.Arg448Ter | |
| ENST00000427587.9:c.*804G>A (EEF2KMT) MANE Select | ENSP00000398502.3:n.*804G>A | |
| ENST00000650085.1:n.2166C>T (ALG1) | ||
| ENST00000262374.9:c.1342C>T (ALG1) | ENSP00000262374.4:p.Arg448Ter | |
| ENST00000427587.8:c.*804G>A (EEF2KMT) | ENSP00000398502.3:n.*804G>A | |
| ENST00000458008.8:c.*804G>A (EEF2KMT) | ENSP00000389710.3:n.*804G>A | |
| ENST00000544428.1:c.1009C>T (ALG1) | ENSP00000440019.1:p.Arg337Ter | |
| ENST00000585436.5:c.*1305G>A (EEF2KMT) | ENSP00000464781.1:n.*1305G>A | |
| ENST00000588623.5:c.1009C>T (ALG1) | ENSP00000468118.1:p.Arg337Ter | |
| ENST00000591822.5:c.*1243C>T (ALG1) | ENSP00000467865.1:n.*1243C>T | |
| NM_001289029.1:c.*804G>A (EEF2KMT) | NP_001275958.1:n.*804G>A | |
| NM_019109.4:c.1342C>T (ALG1) | NP_061982.3:p.Arg448Ter | |
| NM_201400.3:c.*804G>A (EEF2KMT) | NP_958802.1:n.*804G>A | |
| NM_201598.3:c.*804G>A (EEF2KMT) | NP_963892.1:n.*804G>A | |
| XM_011522565.1:c.1009C>T (ALG1) | XP_011520867.1:p.Arg337Ter | |
| NM_001330504.1:c.1009C>T (ALG1) | NP_001317433.1:p.Arg337Ter | |
| XM_005255157.4:c.*804G>A (EEF2KMT) | XP_005255214.1:n.*804G>A | |
| XM_005255158.4:c.*804G>A (EEF2KMT) | XP_005255215.1:n.*804G>A | |
| XM_011522404.2:c.*804G>A (EEF2KMT) | XP_011520706.1:n.*804G>A | |
| XM_017023457.2:c.1303C>T (ALG1) | XP_016878946.1:p.Arg435Ter | |
| XM_017023458.1:c.1009C>T (ALG1) | XP_016878947.1:p.Arg337Ter | |
| XR_932882.3:n.1371C>T (ALG1) | ||
| NM_019109.5:c.1342C>T (ALG1) MANE Select | NP_061982.3:p.Arg448Ter | |
| NM_201400.4:c.*804G>A (EEF2KMT) MANE Select | NP_958802.1:n.*804G>A | |
| NM_001289029.2:c.*804G>A (EEF2KMT) | NP_001275958.1:n.*804G>A | |
| NM_001330504.2:c.1009C>T (ALG1) | NP_001317433.1:p.Arg337Ter | |
| NM_201598.4:c.*804G>A (EEF2KMT) | NP_963892.1:n.*804G>A |