Canonical Allele Identifier: CA2670124633

Gene: QDPR

Linked Data

• gnomAD v4: 4-17492606-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492606C>T , CM000666.2:g.17492606C>T	GRCh38
NC_000004.11:g.17494229C>T , CM000666.1:g.17494229C>T	GRCh37
NC_000004.10:g.17103327C>T	NCBI36
NG_008763.1:g.24629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-266G>A
ENST00000281243.10:c.437-266G>A MANE Select	ENSP00000281243.5:n.437-266G>A
ENST00000281243.9:c.437-266G>A	ENSP00000281243.5:n.437-266G>A
ENST00000428702.6:c.344-266G>A	ENSP00000390944.2:n.344-266G>A
ENST00000505710.1:c.364-1861G>A
ENST00000507439.5:c.437-1861G>A	ENSP00000423227.1:n.437-1861G>A
ENST00000508623.5:c.437-5370G>A	ENSP00000426377.1:n.437-5370G>A
ENST00000513615.5:c.437-1861G>A	ENSP00000422759.1:n.437-1861G>A
ENST00000514300.1:c.*368-1861G>A	ENSP00000426039.1:n.*368-1861G>A
NM_000320.2:c.437-266G>A	NP_000311.2:n.437-266G>A
NM_001306140.1:c.344-266G>A	NP_001293069.1:n.344-266G>A
XR_241677.1:n.600-1861G>A
NR_156494.1:n.617-1861G>A
NM_000320.3:c.437-266G>A MANE Select	NP_000311.2:n.437-266G>A
NM_001306140.2:c.344-266G>A	NP_001293069.1:n.344-266G>A
NR_156494.2:n.473-1861G>A