Canonical Allele Identifier: CA372448529

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657043G>C (hg19) ; chr8:g.143574873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574873G>C , CM000670.2:g.143574873G>C	GRCh38
NC_000008.10:g.144657043G>C , CM000670.1:g.144657043G>C	GRCh37
NC_000008.9:g.144728186G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1582C>G MANE Select	ENSP00000401508.2:p.Leu528Val
ENST00000340490.7:c.1667C>G	ENSP00000341136.3:p.Pro556Arg
ENST00000426292.7:c.1543C>G	ENSP00000390949.3:p.Leu515Val
ENST00000435154.7:c.*291C>G	ENSP00000405670.3:n.*291C>G
ENST00000449291.6:c.1582C>G	ENSP00000401508.2:p.Leu528Val
ENST00000460623.5:c.606C>G
ENST00000464332.5:n.1126C>G
ENST00000498076.5:n.361C>G
ENST00000529179.1:n.366C>G
NM_001286829.1:c.1543C>G	NP_001273758.1:p.Leu515Val
NM_145201.5:c.1582C>G	NP_660202.3:p.Leu528Val
XM_011517377.1:c.1319C>G	XP_011515679.1:p.Pro440Arg
NM_001363145.1:c.1501C>G	NP_001350074.1:p.Leu501Val
NM_001363146.1:c.898C>G	NP_001350075.1:p.Leu300Val
XM_017013975.2:c.1886C>G	XP_016869464.1:p.Pro629Arg
XM_017013976.2:c.1801C>G	XP_016869465.1:p.Leu601Val
XM_017013977.2:c.1586C>G	XP_016869466.1:p.Pro529Arg
XM_017013978.2:c.1538C>G	XP_016869467.1:p.Pro513Arg
XM_017013979.2:c.983C>G	XP_016869468.1:p.Pro328Arg
XM_024447332.1:c.956C>G	XP_024303100.1:p.Pro319Arg
XM_024447333.1:c.902C>G	XP_024303101.1:p.Pro301Arg
NM_145201.6:c.1582C>G MANE Select	NP_660202.3:p.Leu528Val
NM_001286829.2:c.1543C>G	NP_001273758.1:p.Leu515Val