Canonical Allele Identifier: CA356450312

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17506031C>G (hg19) ; chr4:g.17504408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504408C>G , CM000666.2:g.17504408C>G	GRCh38
NC_000004.11:g.17506031C>G , CM000666.1:g.17506031C>G	GRCh37
NC_000004.10:g.17115129C>G	NCBI36
NG_008763.1:g.12827G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1313G>C
ENST00000281243.10:c.266G>C MANE Select	ENSP00000281243.5:p.Gly89Ala
ENST00000281243.9:c.266G>C	ENSP00000281243.5:p.Gly89Ala
ENST00000428702.6:c.173G>C	ENSP00000390944.2:p.Gly58Ala
ENST00000505710.1:c.193G>C
ENST00000507439.5:c.266G>C	ENSP00000423227.1:p.Gly89Ala
ENST00000508623.5:c.266G>C	ENSP00000426377.1:p.Gly89Ala
ENST00000513615.5:c.266G>C	ENSP00000422759.1:p.Gly89Ala
ENST00000514300.1:c.*197G>C	ENSP00000426039.1:n.*197G>C
NM_000320.2:c.266G>C	NP_000311.2:p.Gly89Ala
NM_001306140.1:c.173G>C	NP_001293069.1:p.Gly58Ala
XR_241677.1:n.429G>C
NR_156494.1:n.446G>C
NM_000320.3:c.266G>C MANE Select	NP_000311.2:p.Gly89Ala
NM_001306140.2:c.173G>C	NP_001293069.1:p.Gly58Ala
NR_156494.2:n.302G>C