gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006415 (AFR)
Genomes Max Group AF
0.00006283 (AFR)
Exomes Max Group AF
0.00002552 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196238824dup , CM000665.2:g.196238824dup | GRCh38 |
| NC_000003.11:g.195965695dup , CM000665.1:g.195965695dup | GRCh37 |
| NC_000003.10:g.197450092dup | NCBI36 |
| NG_042817.1:g.53929dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431016.6:c.968dup (PCYT1A) MANE Select | ENSP00000394617.1:p.Ser323ArgfsTer? | |
| ENST00000292823.6:c.968dup (PCYT1A) | ENSP00000292823.2:p.Ser323ArgfsTer? | |
| ENST00000415111.1:c.58-3670dup (SLC51A) | ENSP00000409560.1:n.58-3670dup | |
| ENST00000419333.5:c.968dup (PCYT1A) | ENSP00000390968.1:p.Ser323ArgfsTer? | |
| ENST00000431016.5:c.968dup (PCYT1A) | ENSP00000394617.1:p.Ser323ArgfsTer? | |
| ENST00000441879.5:c.486+8543dup (PCYT1A) | ENSP00000392397.1:n.486+8543dup | |
| ENST00000460827.1:n.529dup (PCYT1A) | ||
| ENST00000496737.1:n.418-1797dup (SLC51A) | ||
| NM_001312673.1:c.968dup (PCYT1A) | NP_001299602.1:p.Ser323ArgfsTer? | |
| NM_005017.2:c.968dup (PCYT1A) | NP_005008.2:p.Ser323ArgfsTer? | |
| NM_005017.3:c.968dup (PCYT1A) | NP_005008.2:p.Ser323ArgfsTer? | |
| NM_001312673.2:c.968dup (PCYT1A) MANE Select | NP_001299602.1:p.Ser323ArgfsTer? | |
| NM_005017.4:c.968dup (PCYT1A) | NP_005008.2:p.Ser323ArgfsTer? |