Canonical Allele Identifier: CA356450321

Gene: QDPR

Linked Data

• ClinVar Variation Id: 1474330
• ClinVar RCV Id: RCV001971190
• dbSNP Id: rs1184906056
• gnomAD v2: 4-17506032-C-G
• gnomAD v4: 4-17504409-C-G
• MyVariant Identifiers: chr4:g.17506032C>G (hg19) ; chr4:g.17504409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504409C>G , CM000666.2:g.17504409C>G	GRCh38
NC_000004.11:g.17506032C>G , CM000666.1:g.17506032C>G	GRCh37
NC_000004.10:g.17115130C>G	NCBI36
NG_008763.1:g.12826G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1312G>C
ENST00000281243.10:c.265G>C MANE Select	ENSP00000281243.5:p.Gly89Arg
ENST00000281243.9:c.265G>C	ENSP00000281243.5:p.Gly89Arg
ENST00000428702.6:c.172G>C	ENSP00000390944.2:p.Gly58Arg
ENST00000505710.1:c.192G>C
ENST00000507439.5:c.265G>C	ENSP00000423227.1:p.Gly89Arg
ENST00000508623.5:c.265G>C	ENSP00000426377.1:p.Gly89Arg
ENST00000513615.5:c.265G>C	ENSP00000422759.1:p.Gly89Arg
ENST00000514300.1:c.*196G>C	ENSP00000426039.1:n.*196G>C
NM_000320.2:c.265G>C	NP_000311.2:p.Gly89Arg
NM_001306140.1:c.172G>C	NP_001293069.1:p.Gly58Arg
XR_241677.1:n.428G>C
NR_156494.1:n.445G>C
NM_000320.3:c.265G>C MANE Select	NP_000311.2:p.Gly89Arg
NM_001306140.2:c.172G>C	NP_001293069.1:p.Gly58Arg
NR_156494.2:n.301G>C