Linked Data
ClinVar Variation Id:
2485340
ClinVar RCV Id:
RCV003219363
dbSNP Id:
rs1888292930
gnomAD v4:
14-23321723-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23321723G>T , CM000676.2:g.23321723G>T | GRCh38 |
| NC_000014.8:g.23790932G>T , CM000676.1:g.23790932G>T | GRCh37 |
| NC_000014.7:g.22860772G>T | NCBI36 |
| NG_008239.1:g.6536G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216727.9:c.254G>T (PABPN1) MANE Select | ENSP00000216727.4:p.Gly85Val | |
| ENST00000678502.1:c.529-458G>T (BCL2L2-PABPN1) | ENSP00000503309.1:n.529-458G>T | |
| ENST00000216727.8:c.254G>T (PABPN1) | ENSP00000216727.4:p.Gly85Val | |
| ENST00000397276.6:c.254G>T (PABPN1) | ENSP00000380446.2:p.Gly85Val | |
| ENST00000553781.5:c.433-458G>T (BCL2L2-PABPN1) | ENSP00000451320.1:n.433-458G>T | |
| ENST00000556821.5:c.-491G>T (PABPN1) | ENSP00000451970.1:n.-491G>T | |
| ENST00000557008.2:c.433-458G>T (BCL2L2-PABPN1) | ENSP00000452479.1:n.433-458G>T | |
| NM_001199864.1:c.433-458G>T (BCL2L2-PABPN1) | NP_001186793.1:n.433-458G>T | |
| NM_004643.3:c.254G>T (PABPN1) | NP_004634.1:p.Gly85Val | |
| NM_001360551.1:c.254G>T (PABPN1) | NP_001347480.1:p.Gly85Val | |
| NM_001199864.2:c.433-458G>T (BCL2L2-PABPN1) | NP_001186793.2:n.433-458G>T | |
| NM_001360551.2:c.254G>T (PABPN1) | NP_001347480.1:p.Gly85Val | |
| NM_001199864.3:c.433-458G>T (BCL2L2-PABPN1) | NP_001186793.2:n.433-458G>T | |
| NM_001360551.3:c.254G>T (PABPN1) | NP_001347480.1:p.Gly85Val | |
| NM_001387340.1:c.550-458G>T (BCL2L2-PABPN1) | NP_001374269.1:n.550-458G>T | |
| NM_001387341.1:c.529-458G>T (BCL2L2-PABPN1) | NP_001374270.1:n.529-458G>T | |
| NM_001387342.1:c.529-458G>T (BCL2L2-PABPN1) | NP_001374271.1:n.529-458G>T | |
| NM_001387343.1:c.529-458G>T (BCL2L2-PABPN1) | NP_001374272.1:n.529-458G>T | |
| NM_001387344.1:c.529-458G>T (BCL2L2-PABPN1) | NP_001374273.1:n.529-458G>T | |
| NM_001387345.1:c.433-458G>T (BCL2L2-PABPN1) | NP_001374274.1:n.433-458G>T | |
| NM_001387346.1:c.433-458G>T (BCL2L2-PABPN1) | NP_001374275.1:n.433-458G>T | |
| NM_004643.4:c.254G>T (PABPN1) MANE Select | NP_004634.1:p.Gly85Val |