Canonical Allele Identifier: CA372450380

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657506A>C (hg19) ; chr8:g.143575336A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575336A>C , CM000670.2:g.143575336A>C	GRCh38
NC_000008.10:g.144657506A>C , CM000670.1:g.144657506A>C	GRCh37
NC_000008.9:g.144728649A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1301T>G MANE Select	ENSP00000401508.2:p.Leu434Arg
ENST00000340490.7:c.1301T>G	ENSP00000341136.3:p.Leu434Arg
ENST00000426292.7:c.1301T>G	ENSP00000390949.3:p.Leu434Arg
ENST00000435154.7:c.1301T>G	ENSP00000405670.3:p.Leu434Arg
ENST00000449291.6:c.1301T>G	ENSP00000401508.2:p.Leu434Arg
ENST00000460623.5:c.279T>G
ENST00000464332.5:n.845T>G
ENST00000498076.5:n.80T>G
NM_001286829.1:c.1301T>G	NP_001273758.1:p.Leu434Arg
NM_145201.5:c.1301T>G	NP_660202.3:p.Leu434Arg
XM_011517377.1:c.1291+87T>G	XP_011515679.1:n.1291+87T>G
NM_001363145.1:c.1220T>G	NP_001350074.1:p.Leu407Arg
NM_001363146.1:c.617T>G	NP_001350075.1:p.Leu206Arg
XM_017013975.2:c.1520T>G	XP_016869464.1:p.Leu507Arg
XM_017013976.2:c.1520T>G	XP_016869465.1:p.Leu507Arg
XM_017013977.2:c.1220T>G	XP_016869466.1:p.Leu407Arg
XM_017013978.2:c.1510+87T>G	XP_016869467.1:n.1510+87T>G
XM_017013979.2:c.617T>G	XP_016869468.1:p.Leu206Arg
XM_024447332.1:c.928+87T>G	XP_024303100.1:n.928+87T>G
XM_024447333.1:c.536T>G	XP_024303101.1:p.Leu179Arg
NM_145201.6:c.1301T>G MANE Select	NP_660202.3:p.Leu434Arg
NM_001286829.2:c.1301T>G	NP_001273758.1:p.Leu434Arg