Canonical Allele Identifier: CA356454274

Gene: QDPR

Linked Data

• ClinVar Variation Id: 2780038
• ClinVar RCV Id: RCV003598231
• MyVariant Identifiers: chr4:g.17513573C>G (hg19) ; chr4:g.17511950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511950C>G , CM000666.2:g.17511950C>G	GRCh38
NC_000004.11:g.17513573C>G , CM000666.1:g.17513573C>G	GRCh37
NC_000004.10:g.17122671C>G	NCBI36
NG_008763.1:g.5285G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.105G>C MANE Select	ENSP00000281243.5:p.Trp35Cys
ENST00000281243.9:c.105G>C	ENSP00000281243.5:p.Trp35Cys
ENST00000428702.6:c.105G>C	ENSP00000390944.2:p.Trp35Cys
ENST00000505710.1:c.32G>C
ENST00000507439.5:c.105G>C	ENSP00000423227.1:p.Trp35Cys
ENST00000508623.5:c.105G>C	ENSP00000426377.1:p.Trp35Cys
ENST00000513615.5:c.105G>C	ENSP00000422759.1:p.Trp35Cys
ENST00000514300.1:c.105G>C	ENSP00000426039.1:p.Trp35Cys
NM_000320.2:c.105G>C	NP_000311.2:p.Trp35Cys
NM_001306140.1:c.105G>C	NP_001293069.1:p.Trp35Cys
XR_241677.1:n.268G>C
NR_156494.1:n.285G>C
NM_000320.3:c.105G>C MANE Select	NP_000311.2:p.Trp35Cys
NM_001306140.2:c.105G>C	NP_001293069.1:p.Trp35Cys
NR_156494.2:n.141G>C