Canonical Allele Identifier: CA1441586126
Gene: QDPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492333G= , CM000666.2:g.17492333G= GRCh38
NC_000004.11:g.17493956G= , CM000666.1:g.17493956G= GRCh37
NC_000004.10:g.17103054G= NCBI36
NG_008763.1:g.24902C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1491C=
ENST00000281243.10:c.444C= MANE Select ENSP00000281243.5:p.Ile148=
ENST00000281243.9:c.444C= ENSP00000281243.5:p.Ile148=
ENST00000428702.6:c.351C= ENSP00000390944.2:p.Ile117=
ENST00000501943.6:n.181C=
ENST00000505710.1:c.364-1588C=
ENST00000507439.5:c.437-1588C= ENSP00000423227.1:n.437-1588C=
ENST00000508623.5:c.437-5097C= ENSP00000426377.1:n.437-5097C=
ENST00000511609.1:n.176C=
ENST00000513615.5:c.437-1588C= ENSP00000422759.1:n.437-1588C=
ENST00000514300.1:c.*368-1588C= ENSP00000426039.1:n.*368-1588C=
NM_000320.2:c.444C= NP_000311.2:p.Ile148=
NM_001306140.1:c.351C= NP_001293069.1:p.Ile117=
XR_241677.1:n.600-1588C=
NR_156494.1:n.617-1588C=
NM_000320.3:c.444C= MANE Select NP_000311.2:p.Ile148=
NM_001306140.2:c.351C= NP_001293069.1:p.Ile117=
NR_156494.2:n.473-1588C=