Canonical Allele Identifier: CA372448554

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657048T>A (hg19) ; chr8:g.143574878T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574878T>A , CM000670.2:g.143574878T>A	GRCh38
NC_000008.10:g.144657048T>A , CM000670.1:g.144657048T>A	GRCh37
NC_000008.9:g.144728191T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1577A>T MANE Select	ENSP00000401508.2:p.Gln526Leu
ENST00000340490.7:c.1662A>T	ENSP00000341136.3:p.Ala554=
ENST00000426292.7:c.1538A>T	ENSP00000390949.3:p.Gln513Leu
ENST00000435154.7:c.*286A>T	ENSP00000405670.3:n.*286A>T
ENST00000449291.6:c.1577A>T	ENSP00000401508.2:p.Gln526Leu
ENST00000460623.5:c.601A>T
ENST00000464332.5:n.1121A>T
ENST00000498076.5:n.356A>T
ENST00000529179.1:n.361A>T
NM_001286829.1:c.1538A>T	NP_001273758.1:p.Gln513Leu
NM_145201.5:c.1577A>T	NP_660202.3:p.Gln526Leu
XM_011517377.1:c.1314A>T	XP_011515679.1:p.Ala438=
NM_001363145.1:c.1496A>T	NP_001350074.1:p.Gln499Leu
NM_001363146.1:c.893A>T	NP_001350075.1:p.Gln298Leu
XM_017013975.2:c.1881A>T	XP_016869464.1:p.Ala627=
XM_017013976.2:c.1796A>T	XP_016869465.1:p.Gln599Leu
XM_017013977.2:c.1581A>T	XP_016869466.1:p.Ala527=
XM_017013978.2:c.1533A>T	XP_016869467.1:p.Ala511=
XM_017013979.2:c.978A>T	XP_016869468.1:p.Ala326=
XM_024447332.1:c.951A>T	XP_024303100.1:p.Ala317=
XM_024447333.1:c.897A>T	XP_024303101.1:p.Ala299=
NM_145201.6:c.1577A>T MANE Select	NP_660202.3:p.Gln526Leu
NM_001286829.2:c.1538A>T	NP_001273758.1:p.Gln513Leu