Canonical Allele Identifier: CA356450378

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17506041C>G (hg19) ; chr4:g.17504418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504418C>G , CM000666.2:g.17504418C>G	GRCh38
NC_000004.11:g.17506041C>G , CM000666.1:g.17506041C>G	GRCh37
NC_000004.10:g.17115139C>G	NCBI36
NG_008763.1:g.12817G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1303G>C
ENST00000281243.10:c.256G>C MANE Select	ENSP00000281243.5:p.Val86Leu
ENST00000281243.9:c.256G>C	ENSP00000281243.5:p.Val86Leu
ENST00000428702.6:c.163G>C	ENSP00000390944.2:p.Val55Leu
ENST00000505710.1:c.183G>C
ENST00000507439.5:c.256G>C	ENSP00000423227.1:p.Val86Leu
ENST00000508623.5:c.256G>C	ENSP00000426377.1:p.Val86Leu
ENST00000513615.5:c.256G>C	ENSP00000422759.1:p.Val86Leu
ENST00000514300.1:c.*187G>C	ENSP00000426039.1:n.*187G>C
NM_000320.2:c.256G>C	NP_000311.2:p.Val86Leu
NM_001306140.1:c.163G>C	NP_001293069.1:p.Val55Leu
XR_241677.1:n.419G>C
NR_156494.1:n.436G>C
NM_000320.3:c.256G>C MANE Select	NP_000311.2:p.Val86Leu
NM_001306140.2:c.163G>C	NP_001293069.1:p.Val55Leu
NR_156494.2:n.292G>C