Linked Data
dbSNP Id:
rs1059177
ExAC:
16:14859093 T / C
gnomAD v2:
16-14859093-T-C
gnomAD v3:
16-14765236-T-C
gnomAD v4:
16-14765236-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14765236T>C , CM000678.2:g.14765236T>C | GRCh38 |
| NC_000016.9:g.14859093T>C , CM000678.1:g.14859093T>C | GRCh37 |
| NC_000016.8:g.14766594T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529166.6:c.933T>C (NPIPA2) MANE Select | ENSP00000432029.1:p.Cys311= | |
| ENST00000529166.5:c.933T>C (NPIPA2) | ENSP00000432029.1:p.Cys311= | |
| ENST00000553201.1:c.876T>C (NPIPA2) | ENSP00000446882.1:p.Cys292= | |
| ENST00000618714.4:c.63+14361T>C (NPIPA1) | ENSP00000484994.1:n.63+14361T>C | |
| ENST00000619019.3:c.902-26T>C (NPIPA3) | ENSP00000479725.1:n.902-26T>C | |
| ENST00000621766.4:c.876T>C (NPIPA3) | ENSP00000483111.1:p.Cys292= | |
| NM_001277324.1:c.876T>C (NPIPA2) | NP_001264253.1:p.Cys292= | |
| XM_005255489.2:c.876T>C (NPIPA2) | XP_005255546.1:p.Cys292= | |
| XR_933118.1:n.168+1166A>G | ||
| XR_933119.1:n.168+1166A>G | ||
| XR_933120.1:n.168+1166A>G | ||
| XM_024450381.1:c.1020T>C (NPIPA2) | XP_024306149.1:p.Cys340= | |
| XM_024450382.1:c.1020T>C (NPIPA2) | XP_024306150.1:p.Cys340= | |
| XM_024450383.1:c.1020T>C (NPIPA2) | XP_024306151.1:p.Cys340= | |
| XM_024450384.1:c.957T>C (NPIPA2) | XP_024306152.1:p.Cys319= | |
| XM_024450385.1:c.933T>C (NPIPA2) | XP_024306153.1:p.Cys311= | |
| XM_024450386.1:c.933T>C (NPIPA2) | XP_024306154.1:p.Cys311= | |
| XM_024450387.1:c.970+50T>C (NPIPA2) | XP_024306155.1:n.970+50T>C | |
| XM_024450388.1:c.888T>C (NPIPA2) | XP_024306156.1:p.Cys296= | |
| XR_933118.2:n.168+1166A>G | ||
| XR_933120.2:n.168+1166A>G | ||
| NM_001277324.3:c.876T>C (NPIPA2) | NP_001264253.1:p.Cys292= | |
| NM_001395485.2:c.933T>C (NPIPA2) MANE Select | NP_001382414.1:p.Cys311= | |
| NM_001395486.2:c.933T>C (NPIPA2) | NP_001382415.1:p.Cys311= |