Linked Data
ClinVar Variation Id:
471151
ClinVar RCV Id:
RCV000543437
dbSNP Id:
rs1553259614
PubMed:
PMID:27694521
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172442057A>C , CM000663.2:g.172442057A>C | GRCh38 |
| NC_000001.10:g.172411197A>C , CM000663.1:g.172411197A>C | GRCh37 |
| NC_000001.9:g.170677820A>C | NCBI36 |
| NG_050631.1:g.7034T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344529.5:c.566T>G (PIGC) MANE Select | ENSP00000356701.3:p.Leu189Trp | |
| ENST00000367727.9:c.22-3016A>C (C1orf105) MANE Select | ENSP00000356700.4:n.22-3016A>C | |
| ENST00000344529.4:c.566T>G (PIGC) | ENSP00000356701.3:p.Leu189Trp | |
| ENST00000367727.8:c.22-3016A>C (C1orf105) | ENSP00000356700.4:n.22-3016A>C | |
| ENST00000367728.1:c.566T>G (PIGC) | ENSP00000356702.1:p.Leu189Trp | |
| ENST00000484368.1:n.96+1931T>G (PIGC) | ||
| NM_002642.3:c.566T>G (PIGC) | NP_002633.1:p.Leu189Trp | |
| NM_139240.3:c.22-3016A>C (C1orf105) | NP_640333.3:n.22-3016A>C | |
| NM_153747.1:c.566T>G (PIGC) | NP_714969.1:p.Leu189Trp | |
| XM_011510152.1:c.103-3016A>C (C1orf105) | XP_011508454.1:n.103-3016A>C | |
| XM_011510153.1:c.10-3016A>C (C1orf105) | XP_011508455.1:n.10-3016A>C | |
| XM_011510154.1:c.-46-6384A>C (C1orf105) | XP_011508456.1:n.-46-6384A>C | |
| XM_011510155.1:c.103-3016A>C (C1orf105) | XP_011508457.1:n.103-3016A>C | |
| XM_011510156.1:c.22-14358A>C (C1orf105) | XP_011508458.1:n.22-14358A>C | |
| XR_922283.1:n.83+14332T>G | ||
| XR_922285.1:n.65+14332T>G | ||
| XM_011510152.2:c.103-3016A>C (C1orf105) | XP_011508454.1:n.103-3016A>C | |
| XM_011510153.2:c.10-3016A>C (C1orf105) | XP_011508455.1:n.10-3016A>C | |
| XM_011510154.2:c.-46-6384A>C (C1orf105) | XP_011508456.1:n.-46-6384A>C | |
| XM_011510155.2:c.103-3016A>C (C1orf105) | XP_011508457.1:n.103-3016A>C | |
| XM_011510156.2:c.22-14358A>C (C1orf105) | XP_011508458.1:n.22-14358A>C | |
| XR_922283.3:n.82+14332T>G | ||
| NM_139240.4:c.22-3016A>C (C1orf105) MANE Select | NP_640333.3:n.22-3016A>C | |
| NM_153747.2:c.566T>G (PIGC) MANE Select | NP_714969.1:p.Leu189Trp | |
| NM_002642.4:c.566T>G (PIGC) | NP_002633.1:p.Leu189Trp |