Canonical Allele Identifier: CA356454422

Gene: QDPR

Linked Data

• ClinVar Variation Id: 567509
• ClinVar RCV Id: RCV000687616
• dbSNP Id: rs1171544975
• gnomAD v2: 4-17513630-G-C
• gnomAD v4: 4-17512007-G-C
• MyVariant Identifiers: chr4:g.17513630G>C (hg19) ; chr4:g.17512007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17512007G>C , CM000666.2:g.17512007G>C	GRCh38
NC_000004.11:g.17513630G>C , CM000666.1:g.17513630G>C	GRCh37
NC_000004.10:g.17122728G>C	NCBI36
NG_008763.1:g.5228C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281243.10:c.48C>G MANE Select	ENSP00000281243.5:p.Tyr16Ter
ENST00000281243.9:c.48C>G	ENSP00000281243.5:p.Tyr16Ter
ENST00000428702.6:c.48C>G	ENSP00000390944.2:p.Tyr16Ter
ENST00000507439.5:c.48C>G	ENSP00000423227.1:p.Tyr16Ter
ENST00000508623.5:c.48C>G	ENSP00000426377.1:p.Tyr16Ter
ENST00000513615.5:c.48C>G	ENSP00000422759.1:p.Tyr16Ter
ENST00000514300.1:c.48C>G	ENSP00000426039.1:p.Tyr16Ter
NM_000320.2:c.48C>G	NP_000311.2:p.Tyr16Ter
NM_001306140.1:c.48C>G	NP_001293069.1:p.Tyr16Ter
XR_241677.1:n.211C>G
NR_156494.1:n.228C>G
NM_000320.3:c.48C>G MANE Select	NP_000311.2:p.Tyr16Ter
NM_001306140.2:c.48C>G	NP_001293069.1:p.Tyr16Ter
NR_156494.2:n.84C>G