Canonical Allele Identifier: CA372448517

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657040C>G (hg19) ; chr8:g.143574870C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574870C>G , CM000670.2:g.143574870C>G	GRCh38
NC_000008.10:g.144657040C>G , CM000670.1:g.144657040C>G	GRCh37
NC_000008.9:g.144728183C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1585G>C MANE Select	ENSP00000401508.2:p.Val529Leu
ENST00000340490.7:c.1670G>C	ENSP00000341136.3:p.Gly557Ala
ENST00000426292.7:c.1546G>C	ENSP00000390949.3:p.Val516Leu
ENST00000435154.7:c.*294G>C	ENSP00000405670.3:n.*294G>C
ENST00000449291.6:c.1585G>C	ENSP00000401508.2:p.Val529Leu
ENST00000460623.5:c.609G>C
ENST00000464332.5:n.1129G>C
ENST00000498076.5:n.364G>C
ENST00000529179.1:n.369G>C
NM_001286829.1:c.1546G>C	NP_001273758.1:p.Val516Leu
NM_145201.5:c.1585G>C	NP_660202.3:p.Val529Leu
XM_011517377.1:c.1322G>C	XP_011515679.1:p.Gly441Ala
NM_001363145.1:c.1504G>C	NP_001350074.1:p.Val502Leu
NM_001363146.1:c.901G>C	NP_001350075.1:p.Val301Leu
XM_017013975.2:c.1889G>C	XP_016869464.1:p.Gly630Ala
XM_017013976.2:c.1804G>C	XP_016869465.1:p.Val602Leu
XM_017013977.2:c.1589G>C	XP_016869466.1:p.Gly530Ala
XM_017013978.2:c.1541G>C	XP_016869467.1:p.Gly514Ala
XM_017013979.2:c.986G>C	XP_016869468.1:p.Gly329Ala
XM_024447332.1:c.959G>C	XP_024303100.1:p.Gly320Ala
XM_024447333.1:c.905G>C	XP_024303101.1:p.Gly302Ala
NM_145201.6:c.1585G>C MANE Select	NP_660202.3:p.Val529Leu
NM_001286829.2:c.1546G>C	NP_001273758.1:p.Val516Leu