Canonical Allele Identifier: CA356444800

Gene: QDPR

Linked Data

• dbSNP Id: rs1481270196
• MyVariant Identifiers: chr4:g.17493916G>T (hg19) ; chr4:g.17492293G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492293G>T , CM000666.2:g.17492293G>T	GRCh38
NC_000004.11:g.17493916G>T , CM000666.1:g.17493916G>T	GRCh37
NC_000004.10:g.17103014G>T	NCBI36
NG_008763.1:g.24942C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1531C>A
ENST00000281243.10:c.484C>A MANE Select	ENSP00000281243.5:p.Gln162Lys
ENST00000281243.9:c.484C>A	ENSP00000281243.5:p.Gln162Lys
ENST00000428702.6:c.391C>A	ENSP00000390944.2:p.Gln131Lys
ENST00000501943.6:n.221C>A
ENST00000505710.1:c.364-1548C>A
ENST00000507439.5:c.437-1548C>A	ENSP00000423227.1:n.437-1548C>A
ENST00000508623.5:c.437-5057C>A	ENSP00000426377.1:n.437-5057C>A
ENST00000511609.1:n.216C>A
ENST00000513615.5:c.437-1548C>A	ENSP00000422759.1:n.437-1548C>A
ENST00000514300.1:c.*368-1548C>A	ENSP00000426039.1:n.*368-1548C>A
NM_000320.2:c.484C>A	NP_000311.2:p.Gln162Lys
NM_001306140.1:c.391C>A	NP_001293069.1:p.Gln131Lys
XR_241677.1:n.600-1548C>A
NR_156494.1:n.617-1548C>A
NM_000320.3:c.484C>A MANE Select	NP_000311.2:p.Gln162Lys
NM_001306140.2:c.391C>A	NP_001293069.1:p.Gln131Lys
NR_156494.2:n.473-1548C>A