Linked Data
ClinVar Variation Id:
1184361
ClinVar RCV Id:
RCV001542367
dbSNP Id:
rs1261895166
gnomAD v2:
16-5134793-C-T
gnomAD v4:
16-5084792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5084792C>T , CM000678.2:g.5084792C>T | GRCh38 |
| NC_000016.9:g.5134793C>T , CM000678.1:g.5134793C>T | GRCh37 |
| NC_000016.8:g.5074794C>T | NCBI36 |
| NG_009202.1:g.17984C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3442C>T (ALG1) | ||
| ENST00000682020.1:c.712C>T (ALG1) | ENSP00000508075.1:p.Gln238Ter | |
| ENST00000682206.1:c.*401C>T (ALG1) | ENSP00000508285.1:n.*401C>T | |
| ENST00000682314.1:n.2362C>T (ALG1) | ||
| ENST00000682327.1:c.778C>T (ALG1) | ENSP00000507058.1:p.Gln260Ter | |
| ENST00000682349.1:n.3448C>T (ALG1) | ||
| ENST00000682703.1:n.5282C>T (ALG1) | ||
| ENST00000682797.1:c.*398C>T (ALG1) | ENSP00000507582.1:n.*398C>T | |
| ENST00000682985.1:c.817C>T (ALG1) | ENSP00000507598.1:p.Gln273Ter | |
| ENST00000683433.1:c.565C>T (ALG1) | ENSP00000507463.1:p.Gln189Ter | |
| ENST00000683685.1:n.3188C>T (ALG1) | ||
| ENST00000683710.1:c.*1273C>T (ALG1) | ENSP00000506785.1:n.*1273C>T | |
| ENST00000683739.1:c.973C>T (ALG1) | ENSP00000507002.1:p.Gln325Ter | |
| ENST00000683772.1:n.2358C>T (ALG1) | ||
| ENST00000684008.1:c.1244C>T (ALG1) | ENSP00000507962.1:n.1244C>T | |
| ENST00000684190.1:c.1267C>T (ALG1) | ENSP00000507554.1:p.Gln423Ter | |
| ENST00000684335.1:c.1195C>T (ALG1) | ENSP00000508112.1:p.Gln399Ter | |
| ENST00000262374.10:c.1306C>T (ALG1) MANE Select | ENSP00000262374.5:p.Gln436Ter | |
| ENST00000427587.9:c.*840G>A (EEF2KMT) MANE Select | ENSP00000398502.3:n.*840G>A | |
| ENST00000650085.1:n.2130C>T (ALG1) | ||
| ENST00000262374.9:c.1306C>T (ALG1) | ENSP00000262374.4:p.Gln436Ter | |
| ENST00000427587.8:c.*840G>A (EEF2KMT) | ENSP00000398502.3:n.*840G>A | |
| ENST00000458008.8:c.*840G>A (EEF2KMT) | ENSP00000389710.3:n.*840G>A | |
| ENST00000544428.1:c.973C>T (ALG1) | ENSP00000440019.1:p.Gln325Ter | |
| ENST00000585436.5:c.*1341G>A (EEF2KMT) | ENSP00000464781.1:n.*1341G>A | |
| ENST00000588623.5:c.973C>T (ALG1) | ENSP00000468118.1:p.Gln325Ter | |
| ENST00000591822.5:c.*1207C>T (ALG1) | ENSP00000467865.1:n.*1207C>T | |
| NM_001289029.1:c.*840G>A (EEF2KMT) | NP_001275958.1:n.*840G>A | |
| NM_019109.4:c.1306C>T (ALG1) | NP_061982.3:p.Gln436Ter | |
| NM_201400.3:c.*840G>A (EEF2KMT) | NP_958802.1:n.*840G>A | |
| NM_201598.3:c.*840G>A (EEF2KMT) | NP_963892.1:n.*840G>A | |
| XM_011522565.1:c.973C>T (ALG1) | XP_011520867.1:p.Gln325Ter | |
| NM_001330504.1:c.973C>T (ALG1) | NP_001317433.1:p.Gln325Ter | |
| XM_005255157.4:c.*840G>A (EEF2KMT) | XP_005255214.1:n.*840G>A | |
| XM_005255158.4:c.*840G>A (EEF2KMT) | XP_005255215.1:n.*840G>A | |
| XM_011522404.2:c.*840G>A (EEF2KMT) | XP_011520706.1:n.*840G>A | |
| XM_017023457.2:c.1267C>T (ALG1) | XP_016878946.1:p.Gln423Ter | |
| XM_017023458.1:c.973C>T (ALG1) | XP_016878947.1:p.Gln325Ter | |
| XR_932882.3:n.1335C>T (ALG1) | ||
| NM_019109.5:c.1306C>T (ALG1) MANE Select | NP_061982.3:p.Gln436Ter | |
| NM_201400.4:c.*840G>A (EEF2KMT) MANE Select | NP_958802.1:n.*840G>A | |
| NM_001289029.2:c.*840G>A (EEF2KMT) | NP_001275958.1:n.*840G>A | |
| NM_001330504.2:c.973C>T (ALG1) | NP_001317433.1:p.Gln325Ter | |
| NM_201598.4:c.*840G>A (EEF2KMT) | NP_963892.1:n.*840G>A |