Canonical Allele Identifier: CA356454304

Gene: QDPR

Linked Data

• ClinVar Variation Id: 1371817
• ClinVar RCV Id: RCV001864648
• dbSNP Id: rs2108999046
• gnomAD v4: 4-17511964-G-A
• MyVariant Identifiers: chr4:g.17513587G>A (hg19) ; chr4:g.17511964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511964G>A , CM000666.2:g.17511964G>A	GRCh38
NC_000004.11:g.17513587G>A , CM000666.1:g.17513587G>A	GRCh37
NC_000004.10:g.17122685G>A	NCBI36
NG_008763.1:g.5271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.91C>T MANE Select	ENSP00000281243.5:p.Arg31Trp
ENST00000281243.9:c.91C>T	ENSP00000281243.5:p.Arg31Trp
ENST00000428702.6:c.91C>T	ENSP00000390944.2:p.Arg31Trp
ENST00000505710.1:c.18C>T
ENST00000507439.5:c.91C>T	ENSP00000423227.1:p.Arg31Trp
ENST00000508623.5:c.91C>T	ENSP00000426377.1:p.Arg31Trp
ENST00000513615.5:c.91C>T	ENSP00000422759.1:p.Arg31Trp
ENST00000514300.1:c.91C>T	ENSP00000426039.1:p.Arg31Trp
NM_000320.2:c.91C>T	NP_000311.2:p.Arg31Trp
NM_001306140.1:c.91C>T	NP_001293069.1:p.Arg31Trp
XR_241677.1:n.254C>T
NR_156494.1:n.271C>T
NM_000320.3:c.91C>T MANE Select	NP_000311.2:p.Arg31Trp
NM_001306140.2:c.91C>T	NP_001293069.1:p.Arg31Trp
NR_156494.2:n.127C>T