Linked Data
ClinVar Variation Id:
809115
dbSNP Id:
rs1201433512
gnomAD v2:
2-182402946-A-C
gnomAD v4:
2-181538219-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181538219A>C , CM000664.2:g.181538219A>C | GRCh38 |
| NC_000002.11:g.182402946A>C , CM000664.1:g.182402946A>C | GRCh37 |
| NC_000002.10:g.182111191A>C | NCBI36 |
| NG_021178.1:g.123889T>G | |
| NG_050623.1:g.86328A>C | |
| NG_021178.2:g.123889T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.808T>G (CERKL) | ENSP00000508396.1:p.Tyr270Asp | |
| ENST00000397033.7:c.*2692A>C (ITGA4) MANE Select | ENSP00000380227.2:n.*2692A>C | |
| ENST00000410087.8:c.1564T>G (CERKL) MANE Select | ENSP00000386725.3:p.Tyr522Asp | |
| ENST00000339098.9:c.1642T>G (CERKL) | ENSP00000341159.5:p.Tyr548Asp | |
| ENST00000374967.6:c.1500T>G (CERKL) | ENSP00000364106.2:n.1500T>G | |
| ENST00000374969.6:c.1225T>G (CERKL) | ENSP00000364108.2:p.Tyr409Asp | |
| ENST00000374970.6:c.1357T>G (CERKL) | ENSP00000364109.2:p.Tyr453Asp | |
| ENST00000409440.7:c.1510T>G (CERKL) | ENSP00000387080.3:p.Tyr504Asp | |
| ENST00000410087.7:c.1564T>G (CERKL) | ENSP00000386725.3:p.Tyr522Asp | |
| ENST00000421817.5:c.*820T>G (CERKL) | ENSP00000411466.1:n.*820T>G | |
| ENST00000452174.5:c.1368T>G (CERKL) | ENSP00000409198.1:n.1368T>G | |
| ENST00000494398.5:n.2356T>G (CERKL) | ||
| NM_000885.5:c.*2692A>C (ITGA4) | NP_000876.3:n.*2692A>C | |
| NM_001030311.2:c.1642T>G (CERKL) | NP_001025482.1:p.Tyr548Asp | |
| NM_001030312.2:c.1225T>G (CERKL) | NP_001025483.1:p.Tyr409Asp | |
| NM_001030313.2:c.1357T>G (CERKL) | NP_001025484.1:p.Tyr453Asp | |
| NM_001160277.1:c.1510T>G (CERKL) | NP_001153749.1:p.Tyr504Asp | |
| NM_201548.4:c.1564T>G (CERKL) | NP_963842.1:p.Tyr522Asp | |
| NR_027689.1:n.1469T>G (CERKL) | ||
| NR_027690.1:n.1601T>G (CERKL) | ||
| NM_000885.6:c.*2692A>C (ITGA4) MANE Select | NP_000876.3:n.*2692A>C | |
| NM_201548.5:c.1564T>G (CERKL) MANE Select | NP_963842.1:p.Tyr522Asp | |
| NM_001030311.3:c.1642T>G (CERKL) | NP_001025482.1:p.Tyr548Asp | |
| NM_001030312.3:c.1225T>G (CERKL) | NP_001025483.1:p.Tyr409Asp | |
| NM_001030313.3:c.1357T>G (CERKL) | NP_001025484.1:p.Tyr453Asp | |
| NM_001160277.2:c.1510T>G (CERKL) | NP_001153749.1:p.Tyr504Asp | |
| NR_027689.2:n.1467T>G (CERKL) | ||
| NR_027690.2:n.1599T>G (CERKL) |