Canonical Allele Identifier: CA356450352

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17506037G>T (hg19) ; chr4:g.17504414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504414G>T , CM000666.2:g.17504414G>T	GRCh38
NC_000004.11:g.17506037G>T , CM000666.1:g.17506037G>T	GRCh37
NC_000004.10:g.17115135G>T	NCBI36
NG_008763.1:g.12821C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1307C>A
ENST00000281243.10:c.260C>A MANE Select	ENSP00000281243.5:p.Ala87Asp
ENST00000281243.9:c.260C>A	ENSP00000281243.5:p.Ala87Asp
ENST00000428702.6:c.167C>A	ENSP00000390944.2:p.Ala56Asp
ENST00000505710.1:c.187C>A
ENST00000507439.5:c.260C>A	ENSP00000423227.1:p.Ala87Asp
ENST00000508623.5:c.260C>A	ENSP00000426377.1:p.Ala87Asp
ENST00000513615.5:c.260C>A	ENSP00000422759.1:p.Ala87Asp
ENST00000514300.1:c.*191C>A	ENSP00000426039.1:n.*191C>A
NM_000320.2:c.260C>A	NP_000311.2:p.Ala87Asp
NM_001306140.1:c.167C>A	NP_001293069.1:p.Ala56Asp
XR_241677.1:n.423C>A
NR_156494.1:n.440C>A
NM_000320.3:c.260C>A MANE Select	NP_000311.2:p.Ala87Asp
NM_001306140.2:c.167C>A	NP_001293069.1:p.Ala56Asp
NR_156494.2:n.296C>A