Canonical Allele Identifier: CA2868079

Gene: QDPR

Linked Data

• ClinVar Variation Id: 2166171
• ClinVar RCV Id: RCV003084744
• dbSNP Id: rs780038283
• ExAC: 4:17493872 G / A
• gnomAD v2: 4-17493872-G-A
• gnomAD v3: 4-17492249-G-A
• gnomAD v4: 4-17492249-G-A
• MyVariant Identifiers: chr4:g.17493872G>A (hg19) ; chr4:g.17492249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492249G>A , CM000666.2:g.17492249G>A	GRCh38
NC_000004.11:g.17493872G>A , CM000666.1:g.17493872G>A	GRCh37
NC_000004.10:g.17102970G>A	NCBI36
NG_008763.1:g.24986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1575C>T
ENST00000281243.10:c.528C>T MANE Select	ENSP00000281243.5:p.Ala176=
ENST00000281243.9:c.528C>T	ENSP00000281243.5:p.Ala176=
ENST00000428702.6:c.435C>T	ENSP00000390944.2:p.Ala145=
ENST00000501943.6:n.265C>T
ENST00000505710.1:c.364-1504C>T
ENST00000507439.5:c.437-1504C>T	ENSP00000423227.1:n.437-1504C>T
ENST00000508623.5:c.437-5013C>T	ENSP00000426377.1:n.437-5013C>T
ENST00000511609.1:n.260C>T
ENST00000513615.5:c.437-1504C>T	ENSP00000422759.1:n.437-1504C>T
ENST00000514300.1:c.*368-1504C>T	ENSP00000426039.1:n.*368-1504C>T
NM_000320.2:c.528C>T	NP_000311.2:p.Ala176=
NM_001306140.1:c.435C>T	NP_001293069.1:p.Ala145=
XR_241677.1:n.600-1504C>T
NR_156494.1:n.617-1504C>T
NM_000320.3:c.528C>T MANE Select	NP_000311.2:p.Ala176=
NM_001306140.2:c.435C>T	NP_001293069.1:p.Ala145=
NR_156494.2:n.473-1504C>T