Canonical Allele Identifier: CA356454360

Gene: QDPR

Linked Data

• gnomAD v4: 4-17511991-G-T
• MyVariant Identifiers: chr4:g.17513614G>T (hg19) ; chr4:g.17511991G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511991G>T , CM000666.2:g.17511991G>T	GRCh38
NC_000004.11:g.17513614G>T , CM000666.1:g.17513614G>T	GRCh37
NC_000004.10:g.17122712G>T	NCBI36
NG_008763.1:g.5244C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281243.10:c.64C>A MANE Select	ENSP00000281243.5:p.Leu22Met
ENST00000281243.9:c.64C>A	ENSP00000281243.5:p.Leu22Met
ENST00000428702.6:c.64C>A	ENSP00000390944.2:p.Leu22Met
ENST00000507439.5:c.64C>A	ENSP00000423227.1:p.Leu22Met
ENST00000508623.5:c.64C>A	ENSP00000426377.1:p.Leu22Met
ENST00000513615.5:c.64C>A	ENSP00000422759.1:p.Leu22Met
ENST00000514300.1:c.64C>A	ENSP00000426039.1:p.Leu22Met
NM_000320.2:c.64C>A	NP_000311.2:p.Leu22Met
NM_001306140.1:c.64C>A	NP_001293069.1:p.Leu22Met
XR_241677.1:n.227C>A
NR_156494.1:n.244C>A
NM_000320.3:c.64C>A MANE Select	NP_000311.2:p.Leu22Met
NM_001306140.2:c.64C>A	NP_001293069.1:p.Leu22Met
NR_156494.2:n.100C>A