Canonical Allele Identifier: CA438712216

Gene: QDPR

Linked Data

• dbSNP Id: rs1718191611
• MyVariant Identifiers: chr4:g.17493878C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492255C>G , CM000666.2:g.17492255C>G	GRCh38
NC_000004.11:g.17493878C>G , CM000666.1:g.17493878C>G	GRCh37
NC_000004.10:g.17102976C>G	NCBI36
NG_008763.1:g.24980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1569G>C
ENST00000281243.10:c.522G>C MANE Select	ENSP00000281243.5:p.Gly174=
ENST00000281243.9:c.522G>C	ENSP00000281243.5:p.Gly174=
ENST00000428702.6:c.429G>C	ENSP00000390944.2:p.Gly143=
ENST00000501943.6:n.259G>C
ENST00000505710.1:c.364-1510G>C
ENST00000507439.5:c.437-1510G>C	ENSP00000423227.1:n.437-1510G>C
ENST00000508623.5:c.437-5019G>C	ENSP00000426377.1:n.437-5019G>C
ENST00000511609.1:n.254G>C
ENST00000513615.5:c.437-1510G>C	ENSP00000422759.1:n.437-1510G>C
ENST00000514300.1:c.*368-1510G>C	ENSP00000426039.1:n.*368-1510G>C
NM_000320.2:c.522G>C	NP_000311.2:p.Gly174=
NM_001306140.1:c.429G>C	NP_001293069.1:p.Gly143=
XR_241677.1:n.600-1510G>C
NR_156494.1:n.617-1510G>C
NM_000320.3:c.522G>C MANE Select	NP_000311.2:p.Gly174=
NM_001306140.2:c.429G>C	NP_001293069.1:p.Gly143=
NR_156494.2:n.473-1510G>C