Canonical Allele Identifier: CA463375768

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574859-C-T
• MyVariant Identifiers: chr8:g.144657029C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574859C>T , CM000670.2:g.143574859C>T	GRCh38
NC_000008.10:g.144657029C>T , CM000670.1:g.144657029C>T	GRCh37
NC_000008.9:g.144728172C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1596G>A MANE Select	ENSP00000401508.2:p.Leu532=
ENST00000340490.7:c.1681G>A	ENSP00000341136.3:p.Val561Met
ENST00000426292.7:c.1557G>A	ENSP00000390949.3:p.Leu519=
ENST00000435154.7:c.*305G>A	ENSP00000405670.3:n.*305G>A
ENST00000449291.6:c.1596G>A	ENSP00000401508.2:p.Leu532=
ENST00000460623.5:c.620G>A
ENST00000464332.5:n.1140G>A
ENST00000498076.5:n.375G>A
ENST00000529179.1:n.380G>A
NM_001286829.1:c.1557G>A	NP_001273758.1:p.Leu519=
NM_145201.5:c.1596G>A	NP_660202.3:p.Leu532=
XM_011517377.1:c.1333G>A	XP_011515679.1:p.Val445Met
NM_001363145.1:c.1515G>A	NP_001350074.1:p.Leu505=
NM_001363146.1:c.912G>A	NP_001350075.1:p.Leu304=
XM_017013975.2:c.1900G>A	XP_016869464.1:p.Val634Met
XM_017013976.2:c.1815G>A	XP_016869465.1:p.Leu605=
XM_017013977.2:c.1600G>A	XP_016869466.1:p.Val534Met
XM_017013978.2:c.1552G>A	XP_016869467.1:p.Val518Met
XM_017013979.2:c.997G>A	XP_016869468.1:p.Val333Met
XM_024447332.1:c.970G>A	XP_024303100.1:p.Val324Met
XM_024447333.1:c.916G>A	XP_024303101.1:p.Val306Met
NM_145201.6:c.1596G>A MANE Select	NP_660202.3:p.Leu532=
NM_001286829.2:c.1557G>A	NP_001273758.1:p.Leu519=