Linked Data
ClinVar Variation Id:
1544196
ClinVar RCV Id:
RCV002172789
dbSNP Id:
rs543939113
ExAC:
16:4390989 G / A
gnomAD v2:
16-4390989-G-A
gnomAD v3:
16-4340988-G-A
gnomAD v4:
16-4340988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4340988G>A , CM000678.2:g.4340988G>A | GRCh38 |
| NC_000016.9:g.4390989G>A , CM000678.1:g.4390989G>A | GRCh37 |
| NC_000016.8:g.4330990G>A | NCBI36 |
| NG_016391.1:g.13765G>A | |
| NG_016391.2:g.31228G>A | |
| NG_054893.1:g.15385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318059.8:c.226-3C>T (PAM16) MANE Select | ENSP00000315693.3:n.226-3C>T | |
| ENST00000318059.7:c.226-3C>T (PAM16) | ENSP00000315693.3:n.226-3C>T | |
| ENST00000571178.1:c.200-3C>T (PAM16) | ||
| ENST00000571941.5:c.286-3C>T (PAM16) | ENSP00000460708.1:n.286-3C>T | |
| ENST00000571986.5:c.*119-3C>T (PAM16) | ENSP00000459802.1:n.*119-3C>T | |
| ENST00000572274.1:n.628-3C>T (CORO7-PAM16) | ||
| ENST00000572467.5:c.2995-3C>T (CORO7-PAM16) | ENSP00000460885.1:n.2995-3C>T | |
| ENST00000573236.5:n.482-3C>T (PAM16) | ||
| ENST00000573450.5:n.359-3C>T (PAM16) | ||
| ENST00000573553.5:c.286-3C>T (PAM16) | ENSP00000459955.1:n.286-3C>T | |
| ENST00000573614.5:n.430-3C>T (PAM16) | ||
| ENST00000575334.5:c.*1521-3C>T (CORO7-PAM16) | ENSP00000458607.1:n.*1521-3C>T | |
| ENST00000575636.5:c.*119-3C>T (PAM16) | ENSP00000458914.1:n.*119-3C>T | |
| ENST00000575848.5:c.262-3C>T (PAM16) | ENSP00000458412.1:n.262-3C>T | |
| ENST00000576217.1:c.226-3C>T (PAM16) | ENSP00000461047.1:n.226-3C>T | |
| ENST00000577031.5:c.226-3C>T (PAM16) | ENSP00000459113.1:n.226-3C>T | |
| NM_001201479.1:c.2995-3C>T (CORO7-PAM16) | NP_001188408.1:n.2995-3C>T | |
| NM_016069.9:c.226-3C>T (PAM16) | NP_057153.8:n.226-3C>T | |
| NM_016069.10:c.226-3C>T (PAM16) | NP_057153.8:n.226-3C>T | |
| NM_016069.11:c.226-3C>T (PAM16) MANE Select | NP_057153.8:n.226-3C>T | |
| NM_001201479.2:c.2995-3C>T (CORO7-PAM16) | NP_001188408.1:n.2995-3C>T |