Canonical Allele Identifier: CA92602086

Gene: QDPR

Linked Data

• ClinVar Variation Id: 2185878
• ClinVar RCV Id: RCV002632607
• dbSNP Id: rs932872839
• gnomAD v2: 4-17506033-T-G
• gnomAD v3: 4-17504410-T-G
• gnomAD v4: 4-17504410-T-G
• MyVariant Identifiers: chr4:g.17506033T>G (hg19) ; chr4:g.17504410T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504410T>G , CM000666.2:g.17504410T>G	GRCh38
NC_000004.11:g.17506033T>G , CM000666.1:g.17506033T>G	GRCh37
NC_000004.10:g.17115131T>G	NCBI36
NG_008763.1:g.12825A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1311A>C
ENST00000281243.10:c.264A>C MANE Select	ENSP00000281243.5:p.Gly88=
ENST00000281243.9:c.264A>C	ENSP00000281243.5:p.Gly88=
ENST00000428702.6:c.171A>C	ENSP00000390944.2:p.Gly57=
ENST00000505710.1:c.191A>C
ENST00000507439.5:c.264A>C	ENSP00000423227.1:p.Gly88=
ENST00000508623.5:c.264A>C	ENSP00000426377.1:p.Gly88=
ENST00000513615.5:c.264A>C	ENSP00000422759.1:p.Gly88=
ENST00000514300.1:c.*195A>C	ENSP00000426039.1:n.*195A>C
NM_000320.2:c.264A>C	NP_000311.2:p.Gly88=
NM_001306140.1:c.171A>C	NP_001293069.1:p.Gly57=
XR_241677.1:n.427A>C
NR_156494.1:n.444A>C
NM_000320.3:c.264A>C MANE Select	NP_000311.2:p.Gly88=
NM_001306140.2:c.171A>C	NP_001293069.1:p.Gly57=
NR_156494.2:n.300A>C