Canonical Allele Identifier: CA356450461

Gene: QDPR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504437C>A , CM000666.2:g.17504437C>A	GRCh38
NC_000004.11:g.17506060C>A , CM000666.1:g.17506060C>A	GRCh37
NC_000004.10:g.17115158C>A	NCBI36
NG_008763.1:g.12798G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000320.3:c.237G>T MANE Select	NP_000311.2:p.Lys79Asn
ENST00000281243.10:c.237G>T MANE Select	ENSP00000281243.5:p.Lys79Asn
NM_000320.2:c.237G>T	NP_000311.2:p.Lys79Asn
NM_001306140.1:c.144G>T	NP_001293069.1:p.Lys48Asn
NM_001306140.2:c.144G>T	NP_001293069.1:p.Lys48Asn
NR_156494.1:n.417G>T
NR_156494.2:n.273G>T
ENST00000281243.9:c.237G>T	ENSP00000281243.5:p.Lys79Asn
ENST00000428702.6:c.144G>T	ENSP00000390944.2:p.Lys48Asn
ENST00000505710.1:c.164G>T
ENST00000507439.5:c.237G>T	ENSP00000423227.1:p.Lys79Asn
ENST00000508623.5:c.237G>T	ENSP00000426377.1:p.Lys79Asn
ENST00000513615.5:c.237G>T	ENSP00000422759.1:p.Lys79Asn
ENST00000514300.1:c.*168G>T	ENSP00000426039.1:n.*168G>T
ENST00000706645.1:n.1284G>T
XR_241677.1:n.400G>T