Canonical Allele Identifier: CA2868077

Gene: QDPR

Linked Data

• dbSNP Id: rs750571831
• ExAC: 4:17493871 C / T
• gnomAD v2: 4-17493871-C-T
• gnomAD v3: 4-17492248-C-T
• gnomAD v4: 4-17492248-C-T
• MyVariant Identifiers: chr4:g.17493871C>T (hg19) ; chr4:g.17492248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492248C>T , CM000666.2:g.17492248C>T	GRCh38
NC_000004.11:g.17493871C>T , CM000666.1:g.17493871C>T	GRCh37
NC_000004.10:g.17102969C>T	NCBI36
NG_008763.1:g.24987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1576G>A
ENST00000281243.10:c.529G>A MANE Select	ENSP00000281243.5:p.Ala177Thr
ENST00000281243.9:c.529G>A	ENSP00000281243.5:p.Ala177Thr
ENST00000428702.6:c.436G>A	ENSP00000390944.2:p.Ala146Thr
ENST00000501943.6:n.266G>A
ENST00000505710.1:c.364-1503G>A
ENST00000507439.5:c.437-1503G>A	ENSP00000423227.1:n.437-1503G>A
ENST00000508623.5:c.437-5012G>A	ENSP00000426377.1:n.437-5012G>A
ENST00000511609.1:n.261G>A
ENST00000513615.5:c.437-1503G>A	ENSP00000422759.1:n.437-1503G>A
ENST00000514300.1:c.*368-1503G>A	ENSP00000426039.1:n.*368-1503G>A
NM_000320.2:c.529G>A	NP_000311.2:p.Ala177Thr
NM_001306140.1:c.436G>A	NP_001293069.1:p.Ala146Thr
XR_241677.1:n.600-1503G>A
NR_156494.1:n.617-1503G>A
NM_000320.3:c.529G>A MANE Select	NP_000311.2:p.Ala177Thr
NM_001306140.2:c.436G>A	NP_001293069.1:p.Ala146Thr
NR_156494.2:n.473-1503G>A