Canonical Allele Identifier: CA1059783123

Gene: QDPR

Linked Data

• dbSNP Id: rs1718203356
• gnomAD v3: 4-17492475-G-A
• gnomAD v4: 4-17492475-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492475G>A , CM000666.2:g.17492475G>A	GRCh38
NC_000004.11:g.17494098G>A , CM000666.1:g.17494098G>A	GRCh37
NC_000004.10:g.17103196G>A	NCBI36
NG_008763.1:g.24760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-135C>T
ENST00000281243.10:c.437-135C>T MANE Select	ENSP00000281243.5:n.437-135C>T
ENST00000281243.9:c.437-135C>T	ENSP00000281243.5:n.437-135C>T
ENST00000428702.6:c.344-135C>T	ENSP00000390944.2:n.344-135C>T
ENST00000501943.6:n.39C>T
ENST00000505710.1:c.364-1730C>T
ENST00000507439.5:c.437-1730C>T	ENSP00000423227.1:n.437-1730C>T
ENST00000508623.5:c.437-5239C>T	ENSP00000426377.1:n.437-5239C>T
ENST00000511609.1:n.34C>T
ENST00000513615.5:c.437-1730C>T	ENSP00000422759.1:n.437-1730C>T
ENST00000514300.1:c.*368-1730C>T	ENSP00000426039.1:n.*368-1730C>T
NM_000320.2:c.437-135C>T	NP_000311.2:n.437-135C>T
NM_001306140.1:c.344-135C>T	NP_001293069.1:n.344-135C>T
XR_241677.1:n.600-1730C>T
NR_156494.1:n.617-1730C>T
NM_000320.3:c.437-135C>T MANE Select	NP_000311.2:n.437-135C>T
NM_001306140.2:c.344-135C>T	NP_001293069.1:n.344-135C>T
NR_156494.2:n.473-1730C>T