Linked Data
dbSNP Id:
rs1319960468
gnomAD v2:
16-4390932-G-A
gnomAD v3:
16-4340931-G-A
gnomAD v4:
16-4340931-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4340931G>A , CM000678.2:g.4340931G>A | GRCh38 |
| NC_000016.9:g.4390932G>A , CM000678.1:g.4390932G>A | GRCh37 |
| NC_000016.8:g.4330933G>A | NCBI36 |
| NG_016391.1:g.13708G>A | |
| NG_016391.2:g.31171G>A | |
| NG_054893.1:g.15442C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318059.8:c.280C>T (PAM16) MANE Select | ENSP00000315693.3:p.Leu94= | |
| ENST00000318059.7:c.280C>T (PAM16) | ENSP00000315693.3:p.Leu94= | |
| ENST00000571178.1:c.254C>T (PAM16) | ||
| ENST00000571941.5:c.340C>T (PAM16) | ENSP00000460708.1:p.Leu114= | |
| ENST00000571986.5:c.*173C>T (PAM16) | ENSP00000459802.1:n.*173C>T | |
| ENST00000572467.5:c.3049C>T (CORO7-PAM16) | ENSP00000460885.1:p.Leu1017= | |
| ENST00000573236.5:n.536C>T (PAM16) | ||
| ENST00000573450.5:n.413C>T (PAM16) | ||
| ENST00000573553.5:c.340C>T (PAM16) | ENSP00000459955.1:p.Leu114= | |
| ENST00000573614.5:n.484C>T (PAM16) | ||
| ENST00000575334.5:c.*1575C>T (CORO7-PAM16) | ENSP00000458607.1:n.*1575C>T | |
| ENST00000575636.5:c.*173C>T (PAM16) | ENSP00000458914.1:n.*173C>T | |
| ENST00000575848.5:c.316C>T (PAM16) | ENSP00000458412.1:p.Leu106= | |
| ENST00000576217.1:c.280C>T (PAM16) | ENSP00000461047.1:p.Leu94= | |
| ENST00000577031.5:c.280C>T (PAM16) | ENSP00000459113.1:p.Leu94= | |
| NM_001201479.1:c.3049C>T (CORO7-PAM16) | NP_001188408.1:p.Leu1017= | |
| NM_016069.9:c.280C>T (PAM16) | NP_057153.8:p.Leu94= | |
| NM_016069.10:c.280C>T (PAM16) | NP_057153.8:p.Leu94= | |
| NM_016069.11:c.280C>T (PAM16) MANE Select | NP_057153.8:p.Leu94= | |
| NM_001201479.2:c.3049C>T (CORO7-PAM16) | NP_001188408.1:p.Leu1017= |