Revel Score:
ENST00000529803 (MANE Select)
0.597
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010391 (EAS)
Genomes Max Group AF
0.00026249 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77103110C>T , CM000673.2:g.77103110C>T | GRCh38 |
| NC_000011.9:g.76814156C>T , CM000673.1:g.76814156C>T | GRCh37 |
| NC_000011.8:g.76491804C>T | NCBI36 |
| NG_033002.1:g.41165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531028.2:c.297+9297C>T (CAPN5) | ENSP00000467244.2:n.297+9297C>T | |
| ENST00000648180.1:c.297+9297C>T (CAPN5) MANE Select | ENSP00000498132.1:n.297+9297C>T | |
| ENST00000278559.7:c.297+9297C>T (CAPN5) | ENSP00000278559.3:n.297+9297C>T | |
| ENST00000456580.6:c.417+9297C>T (CAPN5) | ENSP00000409996.2:n.417+9297C>T | |
| ENST00000529629.5:c.297+9297C>T (CAPN5) | ENSP00000432332.1:n.297+9297C>T | |
| ENST00000529803.1:c.271C>T (OMP) MANE Select | ENSP00000436376.1:p.Leu91Phe | |
| ENST00000531028.1:c.149+18075C>T (CAPN5) | ENSP00000467244.1:n.149+18075C>T | |
| ENST00000533889.1:n.219+9297C>T (CAPN5) | ||
| ENST00000615896.1:c.297+9297C>T (CAPN5) | ENSP00000483282.1:n.297+9297C>T | |
| NM_004055.4:c.297+9297C>T (CAPN5) | NP_004046.2:n.297+9297C>T | |
| NM_006189.1:c.271C>T (OMP) MANE Select | NP_006180.1:p.Leu91Phe | |
| XM_011545225.1:c.417+9297C>T (CAPN5) | XP_011543527.1:n.417+9297C>T | |
| XM_017018223.2:c.297+9297C>T (CAPN5) | XP_016873712.2:n.297+9297C>T | |
| NM_004055.5:c.297+9297C>T (CAPN5) MANE Select | NP_004046.2:n.297+9297C>T |