Canonical Allele Identifier: CA4912620

Gene: NAPRT

Linked Data

• dbSNP Id: rs771134086
• ExAC: 8:144657262 A / G
• gnomAD v4: 8-143575092-A-G
• MyVariant Identifiers: chr8:g.144657262A>G (hg19) ; chr8:g.143575092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575092A>G , CM000670.2:g.143575092A>G	GRCh38
NC_000008.10:g.144657262A>G , CM000670.1:g.144657262A>G	GRCh37
NC_000008.9:g.144728405A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1448T>C MANE Select	ENSP00000401508.2:p.Leu483Pro
ENST00000340490.7:c.1448T>C	ENSP00000341136.3:p.Leu483Pro
ENST00000426292.7:c.1409T>C	ENSP00000390949.3:p.Leu470Pro
ENST00000435154.7:c.*72T>C	ENSP00000405670.3:n.*72T>C
ENST00000449291.6:c.1448T>C	ENSP00000401508.2:p.Leu483Pro
ENST00000460623.5:c.387T>C
ENST00000464332.5:n.992T>C
ENST00000498076.5:n.227T>C
ENST00000529179.1:n.232T>C
NM_001286829.1:c.1409T>C	NP_001273758.1:p.Leu470Pro
NM_145201.5:c.1448T>C	NP_660202.3:p.Leu483Pro
XM_011517377.1:c.1292-192T>C	XP_011515679.1:n.1292-192T>C
NM_001363145.1:c.1367T>C	NP_001350074.1:p.Leu456Pro
NM_001363146.1:c.764T>C	NP_001350075.1:p.Leu255Pro
XM_017013975.2:c.1667T>C	XP_016869464.1:p.Leu556Pro
XM_017013976.2:c.1667T>C	XP_016869465.1:p.Leu556Pro
XM_017013977.2:c.1367T>C	XP_016869466.1:p.Leu456Pro
XM_017013978.2:c.1511-192T>C	XP_016869467.1:n.1511-192T>C
XM_017013979.2:c.764T>C	XP_016869468.1:p.Leu255Pro
XM_024447332.1:c.929-192T>C	XP_024303100.1:n.929-192T>C
XM_024447333.1:c.683T>C	XP_024303101.1:p.Leu228Pro
NM_145201.6:c.1448T>C MANE Select	NP_660202.3:p.Leu483Pro
NM_001286829.2:c.1409T>C	NP_001273758.1:p.Leu470Pro