Canonical Allele Identifier: CA356450292

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17506028C>G (hg19) ; chr4:g.17504405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504405C>G , CM000666.2:g.17504405C>G	GRCh38
NC_000004.11:g.17506028C>G , CM000666.1:g.17506028C>G	GRCh37
NC_000004.10:g.17115126C>G	NCBI36
NG_008763.1:g.12830G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1316G>C
ENST00000281243.10:c.269G>C MANE Select	ENSP00000281243.5:p.Trp90Ser
ENST00000281243.9:c.269G>C	ENSP00000281243.5:p.Trp90Ser
ENST00000428702.6:c.176G>C	ENSP00000390944.2:p.Trp59Ser
ENST00000505710.1:c.196G>C
ENST00000507439.5:c.269G>C	ENSP00000423227.1:p.Trp90Ser
ENST00000508623.5:c.269G>C	ENSP00000426377.1:p.Trp90Ser
ENST00000513615.5:c.269G>C	ENSP00000422759.1:p.Trp90Ser
ENST00000514300.1:c.*200G>C	ENSP00000426039.1:n.*200G>C
NM_000320.2:c.269G>C	NP_000311.2:p.Trp90Ser
NM_001306140.1:c.176G>C	NP_001293069.1:p.Trp59Ser
XR_241677.1:n.432G>C
NR_156494.1:n.449G>C
NM_000320.3:c.269G>C MANE Select	NP_000311.2:p.Trp90Ser
NM_001306140.2:c.176G>C	NP_001293069.1:p.Trp59Ser
NR_156494.2:n.305G>C