Canonical Allele Identifier: CA114327
Gene: QDPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 494
ClinVar RCV Id: RCV000000523
dbSNP Id: rs104893866

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492328T>C , CM000666.2:g.17492328T>C GRCh38
NC_000004.11:g.17493951T>C , CM000666.1:g.17493951T>C GRCh37
NC_000004.10:g.17103049T>C NCBI36
NG_008763.1:g.24907A>G

Transcript Alleles

HGVS Amino-acid change
NM_000320.2:c.449A>G VV NP_000311.2:p.Tyr150Cys
NM_001306140.1:c.356A>G VV NP_001293069.1:p.Tyr119Cys
XR_241677.1:n.600-1583A>G
NR_156494.1:n.617-1583A>G
NM_000320.3:c.449A>G VV MANE Preferred
ENST00000281243.9:c.449A>G ENSP00000281243.5:p.Tyr150Cys
ENST00000428702.6:c.356A>G ENSP00000390944.2:p.Tyr119Cys
ENST00000501943.6:n.186A>G
ENST00000505710.1:n.364-1583A>G
ENST00000507439.5:c.437-1583A>G ENSP00000423227.1:p.=
ENST00000508623.5:c.437-5092A>G ENSP00000426377.1:p.=
ENST00000511609.1:n.181A>G
ENST00000513615.5:c.437-1583A>G ENSP00000422759.1:p.=
ENST00000514300.1:c.*368-1583A>G ENSP00000426039.1:p.=