Canonical Allele Identifier: CA1441586221
Gene: QDPR HGNC NCBI

Linked Data

dbSNP Id: rs1718205538

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492522A>G , CM000666.2:g.17492522A>G GRCh38
NC_000004.11:g.17494145A>G , CM000666.1:g.17494145A>G GRCh37
NC_000004.10:g.17103243A>G NCBI36
NG_008763.1:g.24713T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1484-182T>C
ENST00000281243.10:c.437-182T>C MANE Select ENSP00000281243.5:n.437-182T>C
ENST00000281243.9:c.437-182T>C ENSP00000281243.5:n.437-182T>C
ENST00000428702.6:c.344-182T>C ENSP00000390944.2:n.344-182T>C
ENST00000505710.1:c.364-1777T>C
ENST00000507439.5:c.437-1777T>C ENSP00000423227.1:n.437-1777T>C
ENST00000508623.5:c.437-5286T>C ENSP00000426377.1:n.437-5286T>C
ENST00000513615.5:c.437-1777T>C ENSP00000422759.1:n.437-1777T>C
ENST00000514300.1:c.*368-1777T>C ENSP00000426039.1:n.*368-1777T>C
NM_000320.2:c.437-182T>C NP_000311.2:n.437-182T>C
NM_001306140.1:c.344-182T>C NP_001293069.1:n.344-182T>C
XR_241677.1:n.600-1777T>C
NR_156494.1:n.617-1777T>C
NM_000320.3:c.437-182T>C MANE Select NP_000311.2:n.437-182T>C
NM_001306140.2:c.344-182T>C NP_001293069.1:n.344-182T>C
NR_156494.2:n.473-1777T>C