Canonical Allele Identifier: CA2868250

Gene: QDPR

Linked Data

• ClinVar Variation Id: 623325
• ClinVar RCV Id: RCV000761465
• dbSNP Id: rs757483045
• ExAC: 4:17513629 C / G
• gnomAD v2: 4-17513629-C-G
• gnomAD v3: 4-17512006-C-G
• gnomAD v4: 4-17512006-C-G
• MyVariant Identifiers: chr4:g.17513629C>G (hg19) ; chr4:g.17512006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17512006C>G , CM000666.2:g.17512006C>G	GRCh38
NC_000004.11:g.17513629C>G , CM000666.1:g.17513629C>G	GRCh37
NC_000004.10:g.17122727C>G	NCBI36
NG_008763.1:g.5229G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281243.10:c.49G>C MANE Select	ENSP00000281243.5:p.Gly17Arg
ENST00000281243.9:c.49G>C	ENSP00000281243.5:p.Gly17Arg
ENST00000428702.6:c.49G>C	ENSP00000390944.2:p.Gly17Arg
ENST00000507439.5:c.49G>C	ENSP00000423227.1:p.Gly17Arg
ENST00000508623.5:c.49G>C	ENSP00000426377.1:p.Gly17Arg
ENST00000513615.5:c.49G>C	ENSP00000422759.1:p.Gly17Arg
ENST00000514300.1:c.49G>C	ENSP00000426039.1:p.Gly17Arg
NM_000320.2:c.49G>C	NP_000311.2:p.Gly17Arg
NM_001306140.1:c.49G>C	NP_001293069.1:p.Gly17Arg
XR_241677.1:n.212G>C
NR_156494.1:n.229G>C
NM_000320.3:c.49G>C MANE Select	NP_000311.2:p.Gly17Arg
NM_001306140.2:c.49G>C	NP_001293069.1:p.Gly17Arg
NR_156494.2:n.85G>C