Canonical Allele Identifier: CA356444735
Gene: QDPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492263G>T , CM000666.2:g.17492263G>T GRCh38
NC_000004.11:g.17493886G>T , CM000666.1:g.17493886G>T GRCh37
NC_000004.10:g.17102984G>T NCBI36
NG_008763.1:g.24972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1561C>A
ENST00000281243.10:c.514C>A MANE Select ENSP00000281243.5:p.Pro172Thr
ENST00000281243.9:c.514C>A ENSP00000281243.5:p.Pro172Thr
ENST00000428702.6:c.421C>A ENSP00000390944.2:p.Pro141Thr
ENST00000501943.6:n.251C>A
ENST00000505710.1:c.364-1518C>A
ENST00000507439.5:c.437-1518C>A ENSP00000423227.1:n.437-1518C>A
ENST00000508623.5:c.437-5027C>A ENSP00000426377.1:n.437-5027C>A
ENST00000511609.1:n.246C>A
ENST00000513615.5:c.437-1518C>A ENSP00000422759.1:n.437-1518C>A
ENST00000514300.1:c.*368-1518C>A ENSP00000426039.1:n.*368-1518C>A
NM_000320.2:c.514C>A NP_000311.2:p.Pro172Thr
NM_001306140.1:c.421C>A NP_001293069.1:p.Pro141Thr
XR_241677.1:n.600-1518C>A
NR_156494.1:n.617-1518C>A
NM_000320.3:c.514C>A MANE Select NP_000311.2:p.Pro172Thr
NM_001306140.2:c.421C>A NP_001293069.1:p.Pro141Thr
NR_156494.2:n.473-1518C>A