Canonical Allele Identifier: CA2868243

Gene: QDPR

Linked Data

• ClinVar Variation Id: 1324981
• ClinVar RCV Id: RCV001783658
• dbSNP Id: rs776171302
• ExAC: 4:17513572 C / T
• gnomAD v2: 4-17513572-C-T
• MyVariant Identifiers: chr4:g.17513572C>T (hg19) ; chr4:g.17511949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511949C>T , CM000666.2:g.17511949C>T	GRCh38
NC_000004.11:g.17513572C>T , CM000666.1:g.17513572C>T	GRCh37
NC_000004.10:g.17122670C>T	NCBI36
NG_008763.1:g.5286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.105+1G>A MANE Select	ENSP00000281243.5:n.105+1G>A
ENST00000281243.9:c.105+1G>A	ENSP00000281243.5:n.105+1G>A
ENST00000428702.6:c.105+1G>A	ENSP00000390944.2:n.105+1G>A
ENST00000505710.1:c.32+1G>A
ENST00000507439.5:c.105+1G>A	ENSP00000423227.1:n.105+1G>A
ENST00000508623.5:c.105+1G>A	ENSP00000426377.1:n.105+1G>A
ENST00000513615.5:c.105+1G>A	ENSP00000422759.1:n.105+1G>A
ENST00000514300.1:c.105+1G>A	ENSP00000426039.1:n.105+1G>A
NM_000320.2:c.105+1G>A	NP_000311.2:n.105+1G>A
NM_001306140.1:c.105+1G>A	NP_001293069.1:n.105+1G>A
XR_241677.1:n.268+1G>A
NR_156494.1:n.285+1G>A
NM_000320.3:c.105+1G>A MANE Select	NP_000311.2:n.105+1G>A
NM_001306140.2:c.105+1G>A	NP_001293069.1:n.105+1G>A
NR_156494.2:n.141+1G>A