Canonical Allele Identifier: CA356444705

Gene: QDPR

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1579A>C
ENST00000281243.10:c.532A>C MANE Select	ENSP00000281243.5:p.Ile178Leu
ENST00000281243.9:c.532A>C	ENSP00000281243.5:p.Ile178Leu
ENST00000428702.6:c.439A>C	ENSP00000390944.2:p.Ile147Leu
ENST00000501943.6:n.269A>C
ENST00000505710.1:c.364-1500A>C
ENST00000507439.5:c.437-1500A>C	ENSP00000423227.1:n.437-1500A>C
ENST00000508623.5:c.437-5009A>C	ENSP00000426377.1:n.437-5009A>C
ENST00000511609.1:n.264A>C
ENST00000513615.5:c.437-1500A>C	ENSP00000422759.1:n.437-1500A>C
ENST00000514300.1:c.*368-1500A>C	ENSP00000426039.1:n.*368-1500A>C
NM_000320.2:c.532A>C	NP_000311.2:p.Ile178Leu
NM_001306140.1:c.439A>C	NP_001293069.1:p.Ile147Leu
XR_241677.1:n.600-1500A>C
NR_156494.1:n.617-1500A>C
NM_000320.3:c.532A>C MANE Select	NP_000311.2:p.Ile178Leu
NM_001306140.2:c.439A>C	NP_001293069.1:p.Ile147Leu
NR_156494.2:n.473-1500A>C