Linked Data
ClinVar Variation Id:
187811
ClinVar RCV Id:
RCV000167551
dbSNP Id:
rs786203989
gnomAD v4:
16-4340985-T-C
PubMed:
PMID:24786642
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4340985T>C , CM000678.2:g.4340985T>C | GRCh38 |
| NC_000016.9:g.4390986T>C , CM000678.1:g.4390986T>C | GRCh37 |
| NC_000016.8:g.4330987T>C | NCBI36 |
| NG_016391.1:g.13762T>C | |
| NG_016391.2:g.31225T>C | |
| NG_054893.1:g.15388A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318059.8:c.226A>G (PAM16) MANE Select | ENSP00000315693.3:p.Asn76Asp | |
| ENST00000318059.7:c.226A>G (PAM16) | ENSP00000315693.3:p.Asn76Asp | |
| ENST00000571178.1:c.200A>G (PAM16) | ||
| ENST00000571941.5:c.286A>G (PAM16) | ENSP00000460708.1:p.Asn96Asp | |
| ENST00000571986.5:c.*119A>G (PAM16) | ENSP00000459802.1:n.*119A>G | |
| ENST00000572274.1:n.628A>G (CORO7-PAM16) | ||
| ENST00000572467.5:c.2995A>G (CORO7-PAM16) | ENSP00000460885.1:p.Asn999Asp | |
| ENST00000573236.5:n.482A>G (PAM16) | ||
| ENST00000573450.5:n.359A>G (PAM16) | ||
| ENST00000573553.5:c.286A>G (PAM16) | ENSP00000459955.1:p.Asn96Asp | |
| ENST00000573614.5:n.430A>G (PAM16) | ||
| ENST00000575334.5:c.*1521A>G (CORO7-PAM16) | ENSP00000458607.1:n.*1521A>G | |
| ENST00000575636.5:c.*119A>G (PAM16) | ENSP00000458914.1:n.*119A>G | |
| ENST00000575848.5:c.262A>G (PAM16) | ENSP00000458412.1:p.Asn88Asp | |
| ENST00000576217.1:c.226A>G (PAM16) | ENSP00000461047.1:p.Asn76Asp | |
| ENST00000577031.5:c.226A>G (PAM16) | ENSP00000459113.1:p.Asn76Asp | |
| NM_001201479.1:c.2995A>G (CORO7-PAM16) | NP_001188408.1:p.Asn999Asp | |
| NM_016069.9:c.226A>G (PAM16) | NP_057153.8:p.Asn76Asp | |
| NM_016069.10:c.226A>G (PAM16) | NP_057153.8:p.Asn76Asp | |
| NM_016069.11:c.226A>G (PAM16) MANE Select | NP_057153.8:p.Asn76Asp | |
| NM_001201479.2:c.2995A>G (CORO7-PAM16) | NP_001188408.1:p.Asn999Asp |