Canonical Allele Identifier: CA2868095

Gene: QDPR

Linked Data

• dbSNP Id: rs760872904
• ExAC: 4:17493939 T / G
• gnomAD v2: 4-17493939-T-G
• gnomAD v4: 4-17492316-T-G
• MyVariant Identifiers: chr4:g.17493939T>G (hg19) ; chr4:g.17492316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492316T>G , CM000666.2:g.17492316T>G	GRCh38
NC_000004.11:g.17493939T>G , CM000666.1:g.17493939T>G	GRCh37
NC_000004.10:g.17103037T>G	NCBI36
NG_008763.1:g.24919A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1508A>C
ENST00000281243.10:c.461A>C MANE Select	ENSP00000281243.5:p.Lys154Thr
ENST00000281243.9:c.461A>C	ENSP00000281243.5:p.Lys154Thr
ENST00000428702.6:c.368A>C	ENSP00000390944.2:p.Lys123Thr
ENST00000501943.6:n.198A>C
ENST00000505710.1:c.364-1571A>C
ENST00000507439.5:c.437-1571A>C	ENSP00000423227.1:n.437-1571A>C
ENST00000508623.5:c.437-5080A>C	ENSP00000426377.1:n.437-5080A>C
ENST00000511609.1:n.193A>C
ENST00000513615.5:c.437-1571A>C	ENSP00000422759.1:n.437-1571A>C
ENST00000514300.1:c.*368-1571A>C	ENSP00000426039.1:n.*368-1571A>C
NM_000320.2:c.461A>C	NP_000311.2:p.Lys154Thr
NM_001306140.1:c.368A>C	NP_001293069.1:p.Lys123Thr
XR_241677.1:n.600-1571A>C
NR_156494.1:n.617-1571A>C
NM_000320.3:c.461A>C MANE Select	NP_000311.2:p.Lys154Thr
NM_001306140.2:c.368A>C	NP_001293069.1:p.Lys123Thr
NR_156494.2:n.473-1571A>C