Canonical Allele Identifier: CA372448902

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657200G>C (hg19) ; chr8:g.143575030G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575030G>C , CM000670.2:g.143575030G>C	GRCh38
NC_000008.10:g.144657200G>C , CM000670.1:g.144657200G>C	GRCh37
NC_000008.9:g.144728343G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1510C>G MANE Select	ENSP00000401508.2:p.Leu504Val
ENST00000340490.7:c.1510C>G	ENSP00000341136.3:p.Leu504Val
ENST00000426292.7:c.1471C>G	ENSP00000390949.3:p.Leu491Val
ENST00000435154.7:c.*134C>G	ENSP00000405670.3:n.*134C>G
ENST00000449291.6:c.1510C>G	ENSP00000401508.2:p.Leu504Val
ENST00000460623.5:c.449C>G
ENST00000464332.5:n.1054C>G
ENST00000498076.5:n.289C>G
ENST00000529179.1:n.294C>G
NM_001286829.1:c.1471C>G	NP_001273758.1:p.Leu491Val
NM_145201.5:c.1510C>G	NP_660202.3:p.Leu504Val
XM_011517377.1:c.1292-130C>G	XP_011515679.1:n.1292-130C>G
NM_001363145.1:c.1429C>G	NP_001350074.1:p.Leu477Val
NM_001363146.1:c.826C>G	NP_001350075.1:p.Leu276Val
XM_017013975.2:c.1729C>G	XP_016869464.1:p.Leu577Val
XM_017013976.2:c.1729C>G	XP_016869465.1:p.Leu577Val
XM_017013977.2:c.1429C>G	XP_016869466.1:p.Leu477Val
XM_017013978.2:c.1511-130C>G	XP_016869467.1:n.1511-130C>G
XM_017013979.2:c.826C>G	XP_016869468.1:p.Leu276Val
XM_024447332.1:c.929-130C>G	XP_024303100.1:n.929-130C>G
XM_024447333.1:c.745C>G	XP_024303101.1:p.Leu249Val
NM_145201.6:c.1510C>G MANE Select	NP_660202.3:p.Leu504Val
NM_001286829.2:c.1471C>G	NP_001273758.1:p.Leu491Val