Canonical Allele Identifier: CA92608394

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17512054T>A , CM000666.2:g.17512054T>A	GRCh38
NC_000004.11:g.17513677T>A , CM000666.1:g.17513677T>A	GRCh37
NC_000004.10:g.17122775T>A	NCBI36
NG_008763.1:g.5181A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000320.3:c.1A>T MANE Select	NP_000311.2:p.Met1Leu
ENST00000281243.10:c.1A>T MANE Select	ENSP00000281243.5:p.Met1Leu
NM_000320.2:c.1A>T	NP_000311.2:p.Met1Leu
NM_001306140.1:c.1A>T	NP_001293069.1:p.Met1Leu
NM_001306140.2:c.1A>T	NP_001293069.1:p.Met1Leu
NR_156494.1:n.181A>T
NR_156494.2:n.37A>T
ENST00000281243.9:c.1A>T	ENSP00000281243.5:p.Met1Leu
ENST00000428702.6:c.1A>T	ENSP00000390944.2:p.Met1Leu
ENST00000507439.5:c.1A>T	ENSP00000423227.1:p.Met1Leu
ENST00000508623.5:c.1A>T	ENSP00000426377.1:p.Met1Leu
ENST00000513615.5:c.1A>T	ENSP00000422759.1:p.Met1Leu
ENST00000514300.1:c.1A>T	ENSP00000426039.1:p.Met1Leu
XR_241677.1:n.164A>T