Linked Data
dbSNP Id:
rs1329199500
gnomAD v2:
16-4390936-G-C
gnomAD v3:
16-4340935-G-C
gnomAD v4:
16-4340935-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4340935G>C , CM000678.2:g.4340935G>C | GRCh38 |
| NC_000016.9:g.4390936G>C , CM000678.1:g.4390936G>C | GRCh37 |
| NC_000016.8:g.4330937G>C | NCBI36 |
| NG_016391.1:g.13712G>C | |
| NG_016391.2:g.31175G>C | |
| NG_054893.1:g.15438C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318059.8:c.276C>G (PAM16) MANE Select | ENSP00000315693.3:p.Phe92Leu | |
| ENST00000318059.7:c.276C>G (PAM16) | ENSP00000315693.3:p.Phe92Leu | |
| ENST00000571178.1:c.250C>G (PAM16) | ||
| ENST00000571941.5:c.336C>G (PAM16) | ENSP00000460708.1:p.Phe112Leu | |
| ENST00000571986.5:c.*169C>G (PAM16) | ENSP00000459802.1:n.*169C>G | |
| ENST00000572467.5:c.3045C>G (CORO7-PAM16) | ENSP00000460885.1:p.Phe1015Leu | |
| ENST00000573236.5:n.532C>G (PAM16) | ||
| ENST00000573450.5:n.409C>G (PAM16) | ||
| ENST00000573553.5:c.336C>G (PAM16) | ENSP00000459955.1:p.Phe112Leu | |
| ENST00000573614.5:n.480C>G (PAM16) | ||
| ENST00000575334.5:c.*1571C>G (CORO7-PAM16) | ENSP00000458607.1:n.*1571C>G | |
| ENST00000575636.5:c.*169C>G (PAM16) | ENSP00000458914.1:n.*169C>G | |
| ENST00000575848.5:c.312C>G (PAM16) | ENSP00000458412.1:p.Phe104Leu | |
| ENST00000576217.1:c.276C>G (PAM16) | ENSP00000461047.1:p.Phe92Leu | |
| ENST00000577031.5:c.276C>G (PAM16) | ENSP00000459113.1:p.Phe92Leu | |
| NM_001201479.1:c.3045C>G (CORO7-PAM16) | NP_001188408.1:p.Phe1015Leu | |
| NM_016069.9:c.276C>G (PAM16) | NP_057153.8:p.Phe92Leu | |
| NM_016069.10:c.276C>G (PAM16) | NP_057153.8:p.Phe92Leu | |
| NM_016069.11:c.276C>G (PAM16) MANE Select | NP_057153.8:p.Phe92Leu | |
| NM_001201479.2:c.3045C>G (CORO7-PAM16) | NP_001188408.1:p.Phe1015Leu |