Canonical Allele Identifier: CA438712181

Gene: QDPR

Linked Data

• dbSNP Id: rs767857309
• MyVariant Identifiers: chr4:g.17493866G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492243G>T , CM000666.2:g.17492243G>T	GRCh38
NC_000004.11:g.17493866G>T , CM000666.1:g.17493866G>T	GRCh37
NC_000004.10:g.17102964G>T	NCBI36
NG_008763.1:g.24992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1581C>A
ENST00000281243.10:c.534C>A MANE Select	ENSP00000281243.5:p.Ile178=
ENST00000281243.9:c.534C>A	ENSP00000281243.5:p.Ile178=
ENST00000428702.6:c.441C>A	ENSP00000390944.2:p.Ile147=
ENST00000501943.6:n.271C>A
ENST00000505710.1:c.364-1498C>A
ENST00000507439.5:c.437-1498C>A	ENSP00000423227.1:n.437-1498C>A
ENST00000508623.5:c.437-5007C>A	ENSP00000426377.1:n.437-5007C>A
ENST00000511609.1:n.266C>A
ENST00000513615.5:c.437-1498C>A	ENSP00000422759.1:n.437-1498C>A
ENST00000514300.1:c.*368-1498C>A	ENSP00000426039.1:n.*368-1498C>A
NM_000320.2:c.534C>A	NP_000311.2:p.Ile178=
NM_001306140.1:c.441C>A	NP_001293069.1:p.Ile147=
XR_241677.1:n.600-1498C>A
NR_156494.1:n.617-1498C>A
NM_000320.3:c.534C>A MANE Select	NP_000311.2:p.Ile178=
NM_001306140.2:c.441C>A	NP_001293069.1:p.Ile147=
NR_156494.2:n.473-1498C>A