Canonical Allele Identifier: CA356444796

Gene: QDPR

Linked Data

• ClinVar Variation Id: 2090198
• ClinVar RCV Id: RCV003020789
• MyVariant Identifiers: chr4:g.17493915T>C (hg19) ; chr4:g.17492292T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492292T>C , CM000666.2:g.17492292T>C	GRCh38
NC_000004.11:g.17493915T>C , CM000666.1:g.17493915T>C	GRCh37
NC_000004.10:g.17103013T>C	NCBI36
NG_008763.1:g.24943A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1532A>G
ENST00000281243.10:c.485A>G MANE Select	ENSP00000281243.5:p.Gln162Arg
ENST00000281243.9:c.485A>G	ENSP00000281243.5:p.Gln162Arg
ENST00000428702.6:c.392A>G	ENSP00000390944.2:p.Gln131Arg
ENST00000501943.6:n.222A>G
ENST00000505710.1:c.364-1547A>G
ENST00000507439.5:c.437-1547A>G	ENSP00000423227.1:n.437-1547A>G
ENST00000508623.5:c.437-5056A>G	ENSP00000426377.1:n.437-5056A>G
ENST00000511609.1:n.217A>G
ENST00000513615.5:c.437-1547A>G	ENSP00000422759.1:n.437-1547A>G
ENST00000514300.1:c.*368-1547A>G	ENSP00000426039.1:n.*368-1547A>G
NM_000320.2:c.485A>G	NP_000311.2:p.Gln162Arg
NM_001306140.1:c.392A>G	NP_001293069.1:p.Gln131Arg
XR_241677.1:n.600-1547A>G
NR_156494.1:n.617-1547A>G
NM_000320.3:c.485A>G MANE Select	NP_000311.2:p.Gln162Arg
NM_001306140.2:c.392A>G	NP_001293069.1:p.Gln131Arg
NR_156494.2:n.473-1547A>G