Canonical Allele Identifier: CA2868252

Gene: QDPR

Linked Data

• dbSNP Id: rs750513275
• ExAC: 4:17513634 A / C
• gnomAD v2: 4-17513634-A-C
• gnomAD v4: 4-17512011-A-C
• COSMIC: COSM6359663
• MyVariant Identifiers: chr4:g.17513634A>C (hg19) ; chr4:g.17512011A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17512011A>C , CM000666.2:g.17512011A>C	GRCh38
NC_000004.11:g.17513634A>C , CM000666.1:g.17513634A>C	GRCh37
NC_000004.10:g.17122732A>C	NCBI36
NG_008763.1:g.5224T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.44T>G MANE Select	ENSP00000281243.5:p.Val15Gly
ENST00000281243.9:c.44T>G	ENSP00000281243.5:p.Val15Gly
ENST00000428702.6:c.44T>G	ENSP00000390944.2:p.Val15Gly
ENST00000507439.5:c.44T>G	ENSP00000423227.1:p.Val15Gly
ENST00000508623.5:c.44T>G	ENSP00000426377.1:p.Val15Gly
ENST00000513615.5:c.44T>G	ENSP00000422759.1:p.Val15Gly
ENST00000514300.1:c.44T>G	ENSP00000426039.1:p.Val15Gly
NM_000320.2:c.44T>G	NP_000311.2:p.Val15Gly
NM_001306140.1:c.44T>G	NP_001293069.1:p.Val15Gly
XR_241677.1:n.207T>G
NR_156494.1:n.224T>G
NM_000320.3:c.44T>G MANE Select	NP_000311.2:p.Val15Gly
NM_001306140.2:c.44T>G	NP_001293069.1:p.Val15Gly
NR_156494.2:n.80T>G