Canonical Allele Identifier: CA2868080

Gene: QDPR

Linked Data

• dbSNP Id: rs753946672
• ExAC: 4:17493874 C / T
• MyVariant Identifiers: chr4:g.17493874C>T (hg19) ; chr4:g.17492251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492251C>T , CM000666.2:g.17492251C>T	GRCh38
NC_000004.11:g.17493874C>T , CM000666.1:g.17493874C>T	GRCh37
NC_000004.10:g.17102972C>T	NCBI36
NG_008763.1:g.24984G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1573G>A
ENST00000281243.10:c.526G>A MANE Select	ENSP00000281243.5:p.Ala176Thr
ENST00000281243.9:c.526G>A	ENSP00000281243.5:p.Ala176Thr
ENST00000428702.6:c.433G>A	ENSP00000390944.2:p.Ala145Thr
ENST00000501943.6:n.263G>A
ENST00000505710.1:c.364-1506G>A
ENST00000507439.5:c.437-1506G>A	ENSP00000423227.1:n.437-1506G>A
ENST00000508623.5:c.437-5015G>A	ENSP00000426377.1:n.437-5015G>A
ENST00000511609.1:n.258G>A
ENST00000513615.5:c.437-1506G>A	ENSP00000422759.1:n.437-1506G>A
ENST00000514300.1:c.*368-1506G>A	ENSP00000426039.1:n.*368-1506G>A
NM_000320.2:c.526G>A	NP_000311.2:p.Ala176Thr
NM_001306140.1:c.433G>A	NP_001293069.1:p.Ala145Thr
XR_241677.1:n.600-1506G>A
NR_156494.1:n.617-1506G>A
NM_000320.3:c.526G>A MANE Select	NP_000311.2:p.Ala176Thr
NM_001306140.2:c.433G>A	NP_001293069.1:p.Ala145Thr
NR_156494.2:n.473-1506G>A