Canonical Allele Identifier: CA438712189

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492246-G-C
• MyVariant Identifiers: chr4:g.17493869G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492246G>C , CM000666.2:g.17492246G>C	GRCh38
NC_000004.11:g.17493869G>C , CM000666.1:g.17493869G>C	GRCh37
NC_000004.10:g.17102967G>C	NCBI36
NG_008763.1:g.24989C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1578C>G
ENST00000281243.10:c.531C>G MANE Select	ENSP00000281243.5:p.Ala177=
ENST00000281243.9:c.531C>G	ENSP00000281243.5:p.Ala177=
ENST00000428702.6:c.438C>G	ENSP00000390944.2:p.Ala146=
ENST00000501943.6:n.268C>G
ENST00000505710.1:c.364-1501C>G
ENST00000507439.5:c.437-1501C>G	ENSP00000423227.1:n.437-1501C>G
ENST00000508623.5:c.437-5010C>G	ENSP00000426377.1:n.437-5010C>G
ENST00000511609.1:n.263C>G
ENST00000513615.5:c.437-1501C>G	ENSP00000422759.1:n.437-1501C>G
ENST00000514300.1:c.*368-1501C>G	ENSP00000426039.1:n.*368-1501C>G
NM_000320.2:c.531C>G	NP_000311.2:p.Ala177=
NM_001306140.1:c.438C>G	NP_001293069.1:p.Ala146=
XR_241677.1:n.600-1501C>G
NR_156494.1:n.617-1501C>G
NM_000320.3:c.531C>G MANE Select	NP_000311.2:p.Ala177=
NM_001306140.2:c.438C>G	NP_001293069.1:p.Ala146=
NR_156494.2:n.473-1501C>G