Canonical Allele Identifier: CA372448532

Gene: NAPRT

Linked Data

• dbSNP Id: rs1824314412
• gnomAD v3: 8-143574873-G-T
• gnomAD v4: 8-143574873-G-T
• MyVariant Identifiers: chr8:g.144657043G>T (hg19) ; chr8:g.143574873G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1582C>A MANE Select	ENSP00000401508.2:p.Leu528Met
ENST00000340490.7:c.1667C>A	ENSP00000341136.3:p.Pro556His
ENST00000426292.7:c.1543C>A	ENSP00000390949.3:p.Leu515Met
ENST00000435154.7:c.*291C>A	ENSP00000405670.3:n.*291C>A
ENST00000449291.6:c.1582C>A	ENSP00000401508.2:p.Leu528Met
ENST00000460623.5:c.606C>A
ENST00000464332.5:n.1126C>A
ENST00000498076.5:n.361C>A
ENST00000529179.1:n.366C>A
NM_001286829.1:c.1543C>A	NP_001273758.1:p.Leu515Met
NM_145201.5:c.1582C>A	NP_660202.3:p.Leu528Met
XM_011517377.1:c.1319C>A	XP_011515679.1:p.Pro440His
NM_001363145.1:c.1501C>A	NP_001350074.1:p.Leu501Met
NM_001363146.1:c.898C>A	NP_001350075.1:p.Leu300Met
XM_017013975.2:c.1886C>A	XP_016869464.1:p.Pro629His
XM_017013976.2:c.1801C>A	XP_016869465.1:p.Leu601Met
XM_017013977.2:c.1586C>A	XP_016869466.1:p.Pro529His
XM_017013978.2:c.1538C>A	XP_016869467.1:p.Pro513His
XM_017013979.2:c.983C>A	XP_016869468.1:p.Pro328His
XM_024447332.1:c.956C>A	XP_024303100.1:p.Pro319His
XM_024447333.1:c.902C>A	XP_024303101.1:p.Pro301His
NM_145201.6:c.1582C>A MANE Select	NP_660202.3:p.Leu528Met
NM_001286829.2:c.1543C>A	NP_001273758.1:p.Leu515Met