Linked Data
ClinVar Variation Id:
333004
dbSNP Id:
rs141723283
ExAC:
2:182402954 A / G
gnomAD v2:
2-182402954-A-G
gnomAD v3:
2-181538227-A-G
gnomAD v4:
2-181538227-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181538227A>G , CM000664.2:g.181538227A>G | GRCh38 |
| NC_000002.11:g.182402954A>G , CM000664.1:g.182402954A>G | GRCh37 |
| NC_000002.10:g.182111199A>G | NCBI36 |
| NG_021178.1:g.123881T>C | |
| NG_050623.1:g.86336A>G | |
| NG_021178.2:g.123881T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.800T>C (CERKL) | ENSP00000508396.1:p.Ile267Thr | |
| ENST00000397033.7:c.*2700A>G (ITGA4) MANE Select | ENSP00000380227.2:n.*2700A>G | |
| ENST00000410087.8:c.1556T>C (CERKL) MANE Select | ENSP00000386725.3:p.Ile519Thr | |
| ENST00000339098.9:c.1634T>C (CERKL) | ENSP00000341159.5:p.Ile545Thr | |
| ENST00000374967.6:c.1492T>C (CERKL) | ENSP00000364106.2:n.1492T>C | |
| ENST00000374969.6:c.1217T>C (CERKL) | ENSP00000364108.2:p.Ile406Thr | |
| ENST00000374970.6:c.1349T>C (CERKL) | ENSP00000364109.2:p.Ile450Thr | |
| ENST00000409440.7:c.1502T>C (CERKL) | ENSP00000387080.3:p.Ile501Thr | |
| ENST00000410087.7:c.1556T>C (CERKL) | ENSP00000386725.3:p.Ile519Thr | |
| ENST00000421817.5:c.*812T>C (CERKL) | ENSP00000411466.1:n.*812T>C | |
| ENST00000452174.5:c.1360T>C (CERKL) | ENSP00000409198.1:n.1360T>C | |
| ENST00000494398.5:n.2348T>C (CERKL) | ||
| NM_000885.5:c.*2700A>G (ITGA4) | NP_000876.3:n.*2700A>G | |
| NM_001030311.2:c.1634T>C (CERKL) | NP_001025482.1:p.Ile545Thr | |
| NM_001030312.2:c.1217T>C (CERKL) | NP_001025483.1:p.Ile406Thr | |
| NM_001030313.2:c.1349T>C (CERKL) | NP_001025484.1:p.Ile450Thr | |
| NM_001160277.1:c.1502T>C (CERKL) | NP_001153749.1:p.Ile501Thr | |
| NM_201548.4:c.1556T>C (CERKL) | NP_963842.1:p.Ile519Thr | |
| NR_027689.1:n.1461T>C (CERKL) | ||
| NR_027690.1:n.1593T>C (CERKL) | ||
| NM_000885.6:c.*2700A>G (ITGA4) MANE Select | NP_000876.3:n.*2700A>G | |
| NM_201548.5:c.1556T>C (CERKL) MANE Select | NP_963842.1:p.Ile519Thr | |
| NM_001030311.3:c.1634T>C (CERKL) | NP_001025482.1:p.Ile545Thr | |
| NM_001030312.3:c.1217T>C (CERKL) | NP_001025483.1:p.Ile406Thr | |
| NM_001030313.3:c.1349T>C (CERKL) | NP_001025484.1:p.Ile450Thr | |
| NM_001160277.2:c.1502T>C (CERKL) | NP_001153749.1:p.Ile501Thr | |
| NR_027689.2:n.1459T>C (CERKL) | ||
| NR_027690.2:n.1591T>C (CERKL) |