Canonical Allele Identifier: CA463375774

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657041C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574871C>G , CM000670.2:g.143574871C>G	GRCh38
NC_000008.10:g.144657041C>G , CM000670.1:g.144657041C>G	GRCh37
NC_000008.9:g.144728184C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1584G>C MANE Select	ENSP00000401508.2:p.Leu528=
ENST00000340490.7:c.1669G>C	ENSP00000341136.3:p.Gly557Arg
ENST00000426292.7:c.1545G>C	ENSP00000390949.3:p.Leu515=
ENST00000435154.7:c.*293G>C	ENSP00000405670.3:n.*293G>C
ENST00000449291.6:c.1584G>C	ENSP00000401508.2:p.Leu528=
ENST00000460623.5:c.608G>C
ENST00000464332.5:n.1128G>C
ENST00000498076.5:n.363G>C
ENST00000529179.1:n.368G>C
NM_001286829.1:c.1545G>C	NP_001273758.1:p.Leu515=
NM_145201.5:c.1584G>C	NP_660202.3:p.Leu528=
XM_011517377.1:c.1321G>C	XP_011515679.1:p.Gly441Arg
NM_001363145.1:c.1503G>C	NP_001350074.1:p.Leu501=
NM_001363146.1:c.900G>C	NP_001350075.1:p.Leu300=
XM_017013975.2:c.1888G>C	XP_016869464.1:p.Gly630Arg
XM_017013976.2:c.1803G>C	XP_016869465.1:p.Leu601=
XM_017013977.2:c.1588G>C	XP_016869466.1:p.Gly530Arg
XM_017013978.2:c.1540G>C	XP_016869467.1:p.Gly514Arg
XM_017013979.2:c.985G>C	XP_016869468.1:p.Gly329Arg
XM_024447332.1:c.958G>C	XP_024303100.1:p.Gly320Arg
XM_024447333.1:c.904G>C	XP_024303101.1:p.Gly302Arg
NM_145201.6:c.1584G>C MANE Select	NP_660202.3:p.Leu528=
NM_001286829.2:c.1545G>C	NP_001273758.1:p.Leu515=