Canonical Allele Identifier: CA372448468

Gene: NAPRT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1595T>A MANE Select	ENSP00000401508.2:p.Leu532Gln
ENST00000340490.7:c.1680T>A	ENSP00000341136.3:p.Ser560=
ENST00000426292.7:c.1556T>A	ENSP00000390949.3:p.Leu519Gln
ENST00000435154.7:c.*304T>A	ENSP00000405670.3:n.*304T>A
ENST00000449291.6:c.1595T>A	ENSP00000401508.2:p.Leu532Gln
ENST00000460623.5:c.619T>A
ENST00000464332.5:n.1139T>A
ENST00000498076.5:n.374T>A
ENST00000529179.1:n.379T>A
NM_001286829.1:c.1556T>A	NP_001273758.1:p.Leu519Gln
NM_145201.5:c.1595T>A	NP_660202.3:p.Leu532Gln
XM_011517377.1:c.1332T>A	XP_011515679.1:p.Ser444=
NM_001363145.1:c.1514T>A	NP_001350074.1:p.Leu505Gln
NM_001363146.1:c.911T>A	NP_001350075.1:p.Leu304Gln
XM_017013975.2:c.1899T>A	XP_016869464.1:p.Ser633=
XM_017013976.2:c.1814T>A	XP_016869465.1:p.Leu605Gln
XM_017013977.2:c.1599T>A	XP_016869466.1:p.Ser533=
XM_017013978.2:c.1551T>A	XP_016869467.1:p.Ser517=
XM_017013979.2:c.996T>A	XP_016869468.1:p.Ser332=
XM_024447332.1:c.969T>A	XP_024303100.1:p.Ser323=
XM_024447333.1:c.915T>A	XP_024303101.1:p.Ser305=
NM_145201.6:c.1595T>A MANE Select	NP_660202.3:p.Leu532Gln
NM_001286829.2:c.1556T>A	NP_001273758.1:p.Leu519Gln