Canonical Allele Identifier: CA10617447

Gene: QDPR

Linked Data

• ClinVar Variation Id: 348145
• ClinVar RCV Id: RCV000372550
• dbSNP Id: rs1049600
• gnomAD v2: 4-17488351-T-C
• gnomAD v3: 4-17486728-T-C
• gnomAD v4: 4-17486728-T-C
• MyVariant Identifiers: chr4:g.17488351T>C (hg19) ; chr4:g.17486728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17486728T>C , CM000666.2:g.17486728T>C	GRCh38
NC_000004.11:g.17488351T>C , CM000666.1:g.17488351T>C	GRCh37
NC_000004.10:g.17097449T>C	NCBI36
NG_008763.1:g.30507A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.2185A>G
ENST00000281243.10:c.*403A>G MANE Select	ENSP00000281243.5:n.*403A>G
ENST00000281243.9:c.*403A>G	ENSP00000281243.5:n.*403A>G
ENST00000428702.6:c.*403A>G	ENSP00000390944.2:n.*403A>G
ENST00000507439.5:c.*570A>G	ENSP00000423227.1:n.*570A>G
ENST00000513615.5:c.*119+451A>G	ENSP00000422759.1:n.*119+451A>G
NM_000320.2:c.*403A>G	NP_000311.2:n.*403A>G
NM_001306140.1:c.*403A>G	NP_001293069.1:n.*403A>G
XR_241677.1:n.1192A>G
NR_156494.1:n.1209A>G
NM_000320.3:c.*403A>G MANE Select	NP_000311.2:n.*403A>G
NM_001306140.2:c.*403A>G	NP_001293069.1:n.*403A>G
NR_156494.2:n.1065A>G