Canonical Allele Identifier: CA2868245

Gene: QDPR

Linked Data

• dbSNP Id: rs765204282
• ExAC: 4:17513586 C / T
• gnomAD v2: 4-17513586-C-T
• gnomAD v3: 4-17511963-C-T
• gnomAD v4: 4-17511963-C-T
• MyVariant Identifiers: chr4:g.17513586C>T (hg19) ; chr4:g.17511963C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511963C>T , CM000666.2:g.17511963C>T	GRCh38
NC_000004.11:g.17513586C>T , CM000666.1:g.17513586C>T	GRCh37
NC_000004.10:g.17122684C>T	NCBI36
NG_008763.1:g.5272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.92G>A MANE Select	ENSP00000281243.5:p.Arg31Gln
ENST00000281243.9:c.92G>A	ENSP00000281243.5:p.Arg31Gln
ENST00000428702.6:c.92G>A	ENSP00000390944.2:p.Arg31Gln
ENST00000505710.1:c.19G>A
ENST00000507439.5:c.92G>A	ENSP00000423227.1:p.Arg31Gln
ENST00000508623.5:c.92G>A	ENSP00000426377.1:p.Arg31Gln
ENST00000513615.5:c.92G>A	ENSP00000422759.1:p.Arg31Gln
ENST00000514300.1:c.92G>A	ENSP00000426039.1:p.Arg31Gln
NM_000320.2:c.92G>A	NP_000311.2:p.Arg31Gln
NM_001306140.1:c.92G>A	NP_001293069.1:p.Arg31Gln
XR_241677.1:n.255G>A
NR_156494.1:n.272G>A
NM_000320.3:c.92G>A MANE Select	NP_000311.2:p.Arg31Gln
NM_001306140.2:c.92G>A	NP_001293069.1:p.Arg31Gln
NR_156494.2:n.128G>A