Canonical Allele Identifier: CA372448543

Gene: NAPRT

Linked Data

• COSMIC: COSM1096968 ; COSM4869909
• MyVariant Identifiers: chr8:g.144657046C>A (hg19) ; chr8:g.143574876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574876C>A , CM000670.2:g.143574876C>A	GRCh38
NC_000008.10:g.144657046C>A , CM000670.1:g.144657046C>A	GRCh37
NC_000008.9:g.144728189C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1579G>T MANE Select	ENSP00000401508.2:p.Ala527Ser
ENST00000340490.7:c.1664G>T	ENSP00000341136.3:p.Gly555Val
ENST00000426292.7:c.1540G>T	ENSP00000390949.3:p.Ala514Ser
ENST00000435154.7:c.*288G>T	ENSP00000405670.3:n.*288G>T
ENST00000449291.6:c.1579G>T	ENSP00000401508.2:p.Ala527Ser
ENST00000460623.5:c.603G>T
ENST00000464332.5:n.1123G>T
ENST00000498076.5:n.358G>T
ENST00000529179.1:n.363G>T
NM_001286829.1:c.1540G>T	NP_001273758.1:p.Ala514Ser
NM_145201.5:c.1579G>T	NP_660202.3:p.Ala527Ser
XM_011517377.1:c.1316G>T	XP_011515679.1:p.Gly439Val
NM_001363145.1:c.1498G>T	NP_001350074.1:p.Ala500Ser
NM_001363146.1:c.895G>T	NP_001350075.1:p.Ala299Ser
XM_017013975.2:c.1883G>T	XP_016869464.1:p.Gly628Val
XM_017013976.2:c.1798G>T	XP_016869465.1:p.Ala600Ser
XM_017013977.2:c.1583G>T	XP_016869466.1:p.Gly528Val
XM_017013978.2:c.1535G>T	XP_016869467.1:p.Gly512Val
XM_017013979.2:c.980G>T	XP_016869468.1:p.Gly327Val
XM_024447332.1:c.953G>T	XP_024303100.1:p.Gly318Val
XM_024447333.1:c.899G>T	XP_024303101.1:p.Gly300Val
NM_145201.6:c.1579G>T MANE Select	NP_660202.3:p.Ala527Ser
NM_001286829.2:c.1540G>T	NP_001273758.1:p.Ala514Ser