Canonical Allele Identifier: CA2868168

Gene: QDPR

Linked Data

• ClinVar Variation Id: 1450852
• ClinVar RCV Id: RCV002004957
• dbSNP Id: rs186929388
• ExAC: 4:17506041 C / T
• gnomAD v2: 4-17506041-C-T
• gnomAD v3: 4-17504418-C-T
• gnomAD v4: 4-17504418-C-T
• MyVariant Identifiers: chr4:g.17506041C>T (hg19) ; chr4:g.17504418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504418C>T , CM000666.2:g.17504418C>T	GRCh38
NC_000004.11:g.17506041C>T , CM000666.1:g.17506041C>T	GRCh37
NC_000004.10:g.17115139C>T	NCBI36
NG_008763.1:g.12817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1303G>A
ENST00000281243.10:c.256G>A MANE Select	ENSP00000281243.5:p.Val86Ile
ENST00000281243.9:c.256G>A	ENSP00000281243.5:p.Val86Ile
ENST00000428702.6:c.163G>A	ENSP00000390944.2:p.Val55Ile
ENST00000505710.1:c.183G>A
ENST00000507439.5:c.256G>A	ENSP00000423227.1:p.Val86Ile
ENST00000508623.5:c.256G>A	ENSP00000426377.1:p.Val86Ile
ENST00000513615.5:c.256G>A	ENSP00000422759.1:p.Val86Ile
ENST00000514300.1:c.*187G>A	ENSP00000426039.1:n.*187G>A
NM_000320.2:c.256G>A	NP_000311.2:p.Val86Ile
NM_001306140.1:c.163G>A	NP_001293069.1:p.Val55Ile
XR_241677.1:n.419G>A
NR_156494.1:n.436G>A
NM_000320.3:c.256G>A MANE Select	NP_000311.2:p.Val86Ile
NM_001306140.2:c.163G>A	NP_001293069.1:p.Val55Ile
NR_156494.2:n.292G>A