Canonical Allele Identifier: CA356444703

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17493868T>A (hg19) ; chr4:g.17492245T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492245T>A , CM000666.2:g.17492245T>A	GRCh38
NC_000004.11:g.17493868T>A , CM000666.1:g.17493868T>A	GRCh37
NC_000004.10:g.17102966T>A	NCBI36
NG_008763.1:g.24990A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1579A>T
ENST00000281243.10:c.532A>T MANE Select	ENSP00000281243.5:p.Ile178Phe
ENST00000281243.9:c.532A>T	ENSP00000281243.5:p.Ile178Phe
ENST00000428702.6:c.439A>T	ENSP00000390944.2:p.Ile147Phe
ENST00000501943.6:n.269A>T
ENST00000505710.1:c.364-1500A>T
ENST00000507439.5:c.437-1500A>T	ENSP00000423227.1:n.437-1500A>T
ENST00000508623.5:c.437-5009A>T	ENSP00000426377.1:n.437-5009A>T
ENST00000511609.1:n.264A>T
ENST00000513615.5:c.437-1500A>T	ENSP00000422759.1:n.437-1500A>T
ENST00000514300.1:c.*368-1500A>T	ENSP00000426039.1:n.*368-1500A>T
NM_000320.2:c.532A>T	NP_000311.2:p.Ile178Phe
NM_001306140.1:c.439A>T	NP_001293069.1:p.Ile147Phe
XR_241677.1:n.600-1500A>T
NR_156494.1:n.617-1500A>T
NM_000320.3:c.532A>T MANE Select	NP_000311.2:p.Ile178Phe
NM_001306140.2:c.439A>T	NP_001293069.1:p.Ile147Phe
NR_156494.2:n.473-1500A>T