Linked Data
ClinVar Variation Id:
7368
dbSNP Id:
rs104894466
gnomAD v4:
14-23321504-G-C
PubMed:
PMID:16648376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23321504G>C , CM000676.2:g.23321504G>C | GRCh38 |
| NC_000014.8:g.23790713G>C , CM000676.1:g.23790713G>C | GRCh37 |
| NC_000014.7:g.22860553G>C | NCBI36 |
| NG_008239.1:g.6317G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216727.9:c.35G>C (PABPN1) MANE Select | ENSP00000216727.4:p.Gly12Ala | |
| ENST00000678502.1:c.529-677G>C (BCL2L2-PABPN1) | ENSP00000503309.1:n.529-677G>C | |
| ENST00000216727.8:c.35G>C (PABPN1) | ENSP00000216727.4:p.Gly12Ala | |
| ENST00000397276.6:c.35G>C (PABPN1) | ENSP00000380446.2:p.Gly12Ala | |
| ENST00000553781.5:c.433-677G>C (BCL2L2-PABPN1) | ENSP00000451320.1:n.433-677G>C | |
| ENST00000557008.2:c.433-677G>C (BCL2L2-PABPN1) | ENSP00000452479.1:n.433-677G>C | |
| NM_001199864.1:c.433-677G>C (BCL2L2-PABPN1) | NP_001186793.1:n.433-677G>C | |
| NM_004643.3:c.35G>C (PABPN1) | NP_004634.1:p.Gly12Ala | |
| NM_001360551.1:c.35G>C (PABPN1) | NP_001347480.1:p.Gly12Ala | |
| NM_001199864.2:c.433-677G>C (BCL2L2-PABPN1) | NP_001186793.2:n.433-677G>C | |
| NM_001360551.2:c.35G>C (PABPN1) | NP_001347480.1:p.Gly12Ala | |
| NM_001199864.3:c.433-677G>C (BCL2L2-PABPN1) | NP_001186793.2:n.433-677G>C | |
| NM_001360551.3:c.35G>C (PABPN1) | NP_001347480.1:p.Gly12Ala | |
| NM_001387340.1:c.550-677G>C (BCL2L2-PABPN1) | NP_001374269.1:n.550-677G>C | |
| NM_001387341.1:c.529-677G>C (BCL2L2-PABPN1) | NP_001374270.1:n.529-677G>C | |
| NM_001387342.1:c.529-677G>C (BCL2L2-PABPN1) | NP_001374271.1:n.529-677G>C | |
| NM_001387343.1:c.529-677G>C (BCL2L2-PABPN1) | NP_001374272.1:n.529-677G>C | |
| NM_001387344.1:c.529-677G>C (BCL2L2-PABPN1) | NP_001374273.1:n.529-677G>C | |
| NM_001387345.1:c.433-677G>C (BCL2L2-PABPN1) | NP_001374274.1:n.433-677G>C | |
| NM_001387346.1:c.433-677G>C (BCL2L2-PABPN1) | NP_001374275.1:n.433-677G>C | |
| NM_004643.4:c.35G>C (PABPN1) MANE Select | NP_004634.1:p.Gly12Ala |