Canonical Allele Identifier: CA356444686

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492236-G-A
• MyVariant Identifiers: chr4:g.17493859G>A (hg19) ; chr4:g.17492236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492236G>A , CM000666.2:g.17492236G>A	GRCh38
NC_000004.11:g.17493859G>A , CM000666.1:g.17493859G>A	GRCh37
NC_000004.10:g.17102957G>A	NCBI36
NG_008763.1:g.24999C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1588C>T
ENST00000281243.10:c.541C>T MANE Select	ENSP00000281243.5:p.Leu181Phe
ENST00000281243.9:c.541C>T	ENSP00000281243.5:p.Leu181Phe
ENST00000428702.6:c.448C>T	ENSP00000390944.2:p.Leu150Phe
ENST00000501943.6:n.278C>T
ENST00000505710.1:c.364-1491C>T
ENST00000507439.5:c.437-1491C>T	ENSP00000423227.1:n.437-1491C>T
ENST00000508623.5:c.437-5000C>T	ENSP00000426377.1:n.437-5000C>T
ENST00000511609.1:n.273C>T
ENST00000513615.5:c.437-1491C>T	ENSP00000422759.1:n.437-1491C>T
ENST00000514300.1:c.*368-1491C>T	ENSP00000426039.1:n.*368-1491C>T
NM_000320.2:c.541C>T	NP_000311.2:p.Leu181Phe
NM_001306140.1:c.448C>T	NP_001293069.1:p.Leu150Phe
XR_241677.1:n.600-1491C>T
NR_156494.1:n.617-1491C>T
NM_000320.3:c.541C>T MANE Select	NP_000311.2:p.Leu181Phe
NM_001306140.2:c.448C>T	NP_001293069.1:p.Leu150Phe
NR_156494.2:n.473-1491C>T