Canonical Allele Identifier: CA356444848

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17493938C>G (hg19) ; chr4:g.17492315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492315C>G , CM000666.2:g.17492315C>G	GRCh38
NC_000004.11:g.17493938C>G , CM000666.1:g.17493938C>G	GRCh37
NC_000004.10:g.17103036C>G	NCBI36
NG_008763.1:g.24920G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1509G>C
ENST00000281243.10:c.462G>C MANE Select	ENSP00000281243.5:p.Lys154Asn
ENST00000281243.9:c.462G>C	ENSP00000281243.5:p.Lys154Asn
ENST00000428702.6:c.369G>C	ENSP00000390944.2:p.Lys123Asn
ENST00000501943.6:n.199G>C
ENST00000505710.1:c.364-1570G>C
ENST00000507439.5:c.437-1570G>C	ENSP00000423227.1:n.437-1570G>C
ENST00000508623.5:c.437-5079G>C	ENSP00000426377.1:n.437-5079G>C
ENST00000511609.1:n.194G>C
ENST00000513615.5:c.437-1570G>C	ENSP00000422759.1:n.437-1570G>C
ENST00000514300.1:c.*368-1570G>C	ENSP00000426039.1:n.*368-1570G>C
NM_000320.2:c.462G>C	NP_000311.2:p.Lys154Asn
NM_001306140.1:c.369G>C	NP_001293069.1:p.Lys123Asn
XR_241677.1:n.600-1570G>C
NR_156494.1:n.617-1570G>C
NM_000320.3:c.462G>C MANE Select	NP_000311.2:p.Lys154Asn
NM_001306140.2:c.369G>C	NP_001293069.1:p.Lys123Asn
NR_156494.2:n.473-1570G>C