Canonical Allele Identifier: CA438712172

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17493863A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492240A>T , CM000666.2:g.17492240A>T	GRCh38
NC_000004.11:g.17493863A>T , CM000666.1:g.17493863A>T	GRCh37
NC_000004.10:g.17102961A>T	NCBI36
NG_008763.1:g.24995T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1584T>A
ENST00000281243.10:c.537T>A MANE Select	ENSP00000281243.5:p.Ala179=
ENST00000281243.9:c.537T>A	ENSP00000281243.5:p.Ala179=
ENST00000428702.6:c.444T>A	ENSP00000390944.2:p.Ala148=
ENST00000501943.6:n.274T>A
ENST00000505710.1:c.364-1495T>A
ENST00000507439.5:c.437-1495T>A	ENSP00000423227.1:n.437-1495T>A
ENST00000508623.5:c.437-5004T>A	ENSP00000426377.1:n.437-5004T>A
ENST00000511609.1:n.269T>A
ENST00000513615.5:c.437-1495T>A	ENSP00000422759.1:n.437-1495T>A
ENST00000514300.1:c.*368-1495T>A	ENSP00000426039.1:n.*368-1495T>A
NM_000320.2:c.537T>A	NP_000311.2:p.Ala179=
NM_001306140.1:c.444T>A	NP_001293069.1:p.Ala148=
XR_241677.1:n.600-1495T>A
NR_156494.1:n.617-1495T>A
NM_000320.3:c.537T>A MANE Select	NP_000311.2:p.Ala179=
NM_001306140.2:c.444T>A	NP_001293069.1:p.Ala148=
NR_156494.2:n.473-1495T>A