Canonical Allele Identifier: CA372448560

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657049G>A (hg19) ; chr8:g.143574879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574879G>A , CM000670.2:g.143574879G>A	GRCh38
NC_000008.10:g.144657049G>A , CM000670.1:g.144657049G>A	GRCh37
NC_000008.9:g.144728192G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1576C>T MANE Select	ENSP00000401508.2:p.Gln526Ter
ENST00000340490.7:c.1661C>T	ENSP00000341136.3:p.Ala554Val
ENST00000426292.7:c.1537C>T	ENSP00000390949.3:p.Gln513Ter
ENST00000435154.7:c.*285C>T	ENSP00000405670.3:n.*285C>T
ENST00000449291.6:c.1576C>T	ENSP00000401508.2:p.Gln526Ter
ENST00000460623.5:c.600C>T
ENST00000464332.5:n.1120C>T
ENST00000498076.5:n.355C>T
ENST00000529179.1:n.360C>T
NM_001286829.1:c.1537C>T	NP_001273758.1:p.Gln513Ter
NM_145201.5:c.1576C>T	NP_660202.3:p.Gln526Ter
XM_011517377.1:c.1313C>T	XP_011515679.1:p.Ala438Val
NM_001363145.1:c.1495C>T	NP_001350074.1:p.Gln499Ter
NM_001363146.1:c.892C>T	NP_001350075.1:p.Gln298Ter
XM_017013975.2:c.1880C>T	XP_016869464.1:p.Ala627Val
XM_017013976.2:c.1795C>T	XP_016869465.1:p.Gln599Ter
XM_017013977.2:c.1580C>T	XP_016869466.1:p.Ala527Val
XM_017013978.2:c.1532C>T	XP_016869467.1:p.Ala511Val
XM_017013979.2:c.977C>T	XP_016869468.1:p.Ala326Val
XM_024447332.1:c.950C>T	XP_024303100.1:p.Ala317Val
XM_024447333.1:c.896C>T	XP_024303101.1:p.Ala299Val
NM_145201.6:c.1576C>T MANE Select	NP_660202.3:p.Gln526Ter
NM_001286829.2:c.1537C>T	NP_001273758.1:p.Gln513Ter