Canonical Allele Identifier: CA463375796

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574892-C-G
• MyVariant Identifiers: chr8:g.144657062C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574892C>G , CM000670.2:g.143574892C>G	GRCh38
NC_000008.10:g.144657062C>G , CM000670.1:g.144657062C>G	GRCh37
NC_000008.9:g.144728205C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1563G>C MANE Select	ENSP00000401508.2:p.Leu521=
ENST00000340490.7:c.1648G>C	ENSP00000341136.3:p.Val550Leu
ENST00000426292.7:c.1524G>C	ENSP00000390949.3:p.Leu508=
ENST00000435154.7:c.*272G>C	ENSP00000405670.3:n.*272G>C
ENST00000449291.6:c.1563G>C	ENSP00000401508.2:p.Leu521=
ENST00000460623.5:c.587G>C
ENST00000464332.5:n.1107G>C
ENST00000498076.5:n.342G>C
ENST00000529179.1:n.347G>C
NM_001286829.1:c.1524G>C	NP_001273758.1:p.Leu508=
NM_145201.5:c.1563G>C	NP_660202.3:p.Leu521=
XM_011517377.1:c.1300G>C	XP_011515679.1:p.Val434Leu
NM_001363145.1:c.1482G>C	NP_001350074.1:p.Leu494=
NM_001363146.1:c.879G>C	NP_001350075.1:p.Leu293=
XM_017013975.2:c.1867G>C	XP_016869464.1:p.Val623Leu
XM_017013976.2:c.1782G>C	XP_016869465.1:p.Leu594=
XM_017013977.2:c.1567G>C	XP_016869466.1:p.Val523Leu
XM_017013978.2:c.1519G>C	XP_016869467.1:p.Val507Leu
XM_017013979.2:c.964G>C	XP_016869468.1:p.Val322Leu
XM_024447332.1:c.937G>C	XP_024303100.1:p.Val313Leu
XM_024447333.1:c.883G>C	XP_024303101.1:p.Val295Leu
NM_145201.6:c.1563G>C MANE Select	NP_660202.3:p.Leu521=
NM_001286829.2:c.1524G>C	NP_001273758.1:p.Leu508=