Canonical Allele Identifier: CA2868167

Gene: QDPR

Linked Data

• dbSNP Id: rs186929388
• ExAC: 4:17506041 C / A
• gnomAD v2: 4-17506041-C-A
• gnomAD v3: 4-17504418-C-A
• gnomAD v4: 4-17504418-C-A
• MyVariant Identifiers: chr4:g.17506041C>A (hg19) ; chr4:g.17504418C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1303G>T
ENST00000281243.10:c.256G>T MANE Select	ENSP00000281243.5:p.Val86Phe
ENST00000281243.9:c.256G>T	ENSP00000281243.5:p.Val86Phe
ENST00000428702.6:c.163G>T	ENSP00000390944.2:p.Val55Phe
ENST00000505710.1:c.183G>T
ENST00000507439.5:c.256G>T	ENSP00000423227.1:p.Val86Phe
ENST00000508623.5:c.256G>T	ENSP00000426377.1:p.Val86Phe
ENST00000513615.5:c.256G>T	ENSP00000422759.1:p.Val86Phe
ENST00000514300.1:c.*187G>T	ENSP00000426039.1:n.*187G>T
NM_000320.2:c.256G>T	NP_000311.2:p.Val86Phe
NM_001306140.1:c.163G>T	NP_001293069.1:p.Val55Phe
XR_241677.1:n.419G>T
NR_156494.1:n.436G>T
NM_000320.3:c.256G>T MANE Select	NP_000311.2:p.Val86Phe
NM_001306140.2:c.163G>T	NP_001293069.1:p.Val55Phe
NR_156494.2:n.292G>T