Canonical Allele Identifier: CA1059782926

Gene: QDPR

Linked Data

• dbSNP Id: rs1718174723
• gnomAD v3: 4-17491827-C-T
• gnomAD v4: 4-17491827-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491827C>T , CM000666.2:g.17491827C>T	GRCh38
NC_000004.11:g.17493450C>T , CM000666.1:g.17493450C>T	GRCh37
NC_000004.10:g.17102548C>T	NCBI36
NG_008763.1:g.25408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+405G>A
ENST00000281243.10:c.545+405G>A MANE Select	ENSP00000281243.5:n.545+405G>A
ENST00000281243.9:c.545+405G>A	ENSP00000281243.5:n.545+405G>A
ENST00000428702.6:c.452+405G>A	ENSP00000390944.2:n.452+405G>A
ENST00000501943.6:n.282+405G>A
ENST00000505710.1:c.364-1082G>A
ENST00000507439.5:c.437-1082G>A	ENSP00000423227.1:n.437-1082G>A
ENST00000508623.5:c.437-4591G>A	ENSP00000426377.1:n.437-4591G>A
ENST00000511609.1:n.277+405G>A
ENST00000513615.5:c.437-1082G>A	ENSP00000422759.1:n.437-1082G>A
ENST00000514300.1:c.*368-1082G>A	ENSP00000426039.1:n.*368-1082G>A
NM_000320.2:c.545+405G>A	NP_000311.2:n.545+405G>A
NM_001306140.1:c.452+405G>A	NP_001293069.1:n.452+405G>A
XR_241677.1:n.600-1082G>A
NR_156494.1:n.617-1082G>A
NM_000320.3:c.545+405G>A MANE Select	NP_000311.2:n.545+405G>A
NM_001306140.2:c.452+405G>A	NP_001293069.1:n.452+405G>A
NR_156494.2:n.473-1082G>A