Canonical Allele Identifier: CA92601964

Gene: QDPR

Linked Data

• dbSNP Id: rs953487494
• gnomAD v2: 4-17505871-C-T
• gnomAD v3: 4-17504248-C-T
• gnomAD v4: 4-17504248-C-T
• MyVariant Identifiers: chr4:g.17505871C>T (hg19) ; chr4:g.17504248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504248C>T , CM000666.2:g.17504248C>T	GRCh38
NC_000004.11:g.17505871C>T , CM000666.1:g.17505871C>T	GRCh37
NC_000004.10:g.17114969C>T	NCBI36
NG_008763.1:g.12987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1342+131G>A
ENST00000281243.10:c.295+131G>A MANE Select	ENSP00000281243.5:n.295+131G>A
ENST00000281243.9:c.295+131G>A	ENSP00000281243.5:n.295+131G>A
ENST00000428702.6:c.202+131G>A	ENSP00000390944.2:n.202+131G>A
ENST00000505710.1:c.222+131G>A
ENST00000507439.5:c.295+131G>A	ENSP00000423227.1:n.295+131G>A
ENST00000508623.5:c.295+131G>A	ENSP00000426377.1:n.295+131G>A
ENST00000513615.5:c.295+131G>A	ENSP00000422759.1:n.295+131G>A
ENST00000514300.1:c.*226+131G>A	ENSP00000426039.1:n.*226+131G>A
NM_000320.2:c.295+131G>A	NP_000311.2:n.295+131G>A
NM_001306140.1:c.202+131G>A	NP_001293069.1:n.202+131G>A
XR_241677.1:n.458+131G>A
NR_156494.1:n.475+131G>A
NM_000320.3:c.295+131G>A MANE Select	NP_000311.2:n.295+131G>A
NM_001306140.2:c.202+131G>A	NP_001293069.1:n.202+131G>A
NR_156494.2:n.331+131G>A