Canonical Allele Identifier: CA356450384

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17506042G>T (hg19) ; chr4:g.17504419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504419G>T , CM000666.2:g.17504419G>T	GRCh38
NC_000004.11:g.17506042G>T , CM000666.1:g.17506042G>T	GRCh37
NC_000004.10:g.17115140G>T	NCBI36
NG_008763.1:g.12816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1302C>A
ENST00000281243.10:c.255C>A MANE Select	ENSP00000281243.5:p.Cys85Ter
ENST00000281243.9:c.255C>A	ENSP00000281243.5:p.Cys85Ter
ENST00000428702.6:c.162C>A	ENSP00000390944.2:p.Cys54Ter
ENST00000505710.1:c.182C>A
ENST00000507439.5:c.255C>A	ENSP00000423227.1:p.Cys85Ter
ENST00000508623.5:c.255C>A	ENSP00000426377.1:p.Cys85Ter
ENST00000513615.5:c.255C>A	ENSP00000422759.1:p.Cys85Ter
ENST00000514300.1:c.*186C>A	ENSP00000426039.1:n.*186C>A
NM_000320.2:c.255C>A	NP_000311.2:p.Cys85Ter
NM_001306140.1:c.162C>A	NP_001293069.1:p.Cys54Ter
XR_241677.1:n.418C>A
NR_156494.1:n.435C>A
NM_000320.3:c.255C>A MANE Select	NP_000311.2:p.Cys85Ter
NM_001306140.2:c.162C>A	NP_001293069.1:p.Cys54Ter
NR_156494.2:n.291C>A