Canonical Allele Identifier: CA438712299

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492294-G-A
• COSMIC: COSM1428557
• MyVariant Identifiers: chr4:g.17493917G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492294G>A , CM000666.2:g.17492294G>A	GRCh38
NC_000004.11:g.17493917G>A , CM000666.1:g.17493917G>A	GRCh37
NC_000004.10:g.17103015G>A	NCBI36
NG_008763.1:g.24941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1530C>T
ENST00000281243.10:c.483C>T MANE Select	ENSP00000281243.5:p.Cys161=
ENST00000281243.9:c.483C>T	ENSP00000281243.5:p.Cys161=
ENST00000428702.6:c.390C>T	ENSP00000390944.2:p.Cys130=
ENST00000501943.6:n.220C>T
ENST00000505710.1:c.364-1549C>T
ENST00000507439.5:c.437-1549C>T	ENSP00000423227.1:n.437-1549C>T
ENST00000508623.5:c.437-5058C>T	ENSP00000426377.1:n.437-5058C>T
ENST00000511609.1:n.215C>T
ENST00000513615.5:c.437-1549C>T	ENSP00000422759.1:n.437-1549C>T
ENST00000514300.1:c.*368-1549C>T	ENSP00000426039.1:n.*368-1549C>T
NM_000320.2:c.483C>T	NP_000311.2:p.Cys161=
NM_001306140.1:c.390C>T	NP_001293069.1:p.Cys130=
XR_241677.1:n.600-1549C>T
NR_156494.1:n.617-1549C>T
NM_000320.3:c.483C>T MANE Select	NP_000311.2:p.Cys161=
NM_001306140.2:c.390C>T	NP_001293069.1:p.Cys130=
NR_156494.2:n.473-1549C>T