Canonical Allele Identifier: CA372448466

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657030A>C (hg19) ; chr8:g.143574860A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574860A>C , CM000670.2:g.143574860A>C	GRCh38
NC_000008.10:g.144657030A>C , CM000670.1:g.144657030A>C	GRCh37
NC_000008.9:g.144728173A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1595T>G MANE Select	ENSP00000401508.2:p.Leu532Arg
ENST00000340490.7:c.1680T>G	ENSP00000341136.3:p.Ser560=
ENST00000426292.7:c.1556T>G	ENSP00000390949.3:p.Leu519Arg
ENST00000435154.7:c.*304T>G	ENSP00000405670.3:n.*304T>G
ENST00000449291.6:c.1595T>G	ENSP00000401508.2:p.Leu532Arg
ENST00000460623.5:c.619T>G
ENST00000464332.5:n.1139T>G
ENST00000498076.5:n.374T>G
ENST00000529179.1:n.379T>G
NM_001286829.1:c.1556T>G	NP_001273758.1:p.Leu519Arg
NM_145201.5:c.1595T>G	NP_660202.3:p.Leu532Arg
XM_011517377.1:c.1332T>G	XP_011515679.1:p.Ser444=
NM_001363145.1:c.1514T>G	NP_001350074.1:p.Leu505Arg
NM_001363146.1:c.911T>G	NP_001350075.1:p.Leu304Arg
XM_017013975.2:c.1899T>G	XP_016869464.1:p.Ser633=
XM_017013976.2:c.1814T>G	XP_016869465.1:p.Leu605Arg
XM_017013977.2:c.1599T>G	XP_016869466.1:p.Ser533=
XM_017013978.2:c.1551T>G	XP_016869467.1:p.Ser517=
XM_017013979.2:c.996T>G	XP_016869468.1:p.Ser332=
XM_024447332.1:c.969T>G	XP_024303100.1:p.Ser323=
XM_024447333.1:c.915T>G	XP_024303101.1:p.Ser305=
NM_145201.6:c.1595T>G MANE Select	NP_660202.3:p.Leu532Arg
NM_001286829.2:c.1556T>G	NP_001273758.1:p.Leu519Arg