Canonical Allele Identifier: CA372448571

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574881-A-G
• MyVariant Identifiers: chr8:g.144657051A>G (hg19) ; chr8:g.143574881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574881A>G , CM000670.2:g.143574881A>G	GRCh38
NC_000008.10:g.144657051A>G , CM000670.1:g.144657051A>G	GRCh37
NC_000008.9:g.144728194A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1574T>C MANE Select	ENSP00000401508.2:p.Leu525Pro
ENST00000340490.7:c.1659T>C	ENSP00000341136.3:p.Ala553=
ENST00000426292.7:c.1535T>C	ENSP00000390949.3:p.Leu512Pro
ENST00000435154.7:c.*283T>C	ENSP00000405670.3:n.*283T>C
ENST00000449291.6:c.1574T>C	ENSP00000401508.2:p.Leu525Pro
ENST00000460623.5:c.598T>C
ENST00000464332.5:n.1118T>C
ENST00000498076.5:n.353T>C
ENST00000529179.1:n.358T>C
NM_001286829.1:c.1535T>C	NP_001273758.1:p.Leu512Pro
NM_145201.5:c.1574T>C	NP_660202.3:p.Leu525Pro
XM_011517377.1:c.1311T>C	XP_011515679.1:p.Ala437=
NM_001363145.1:c.1493T>C	NP_001350074.1:p.Leu498Pro
NM_001363146.1:c.890T>C	NP_001350075.1:p.Leu297Pro
XM_017013975.2:c.1878T>C	XP_016869464.1:p.Ala626=
XM_017013976.2:c.1793T>C	XP_016869465.1:p.Leu598Pro
XM_017013977.2:c.1578T>C	XP_016869466.1:p.Ala526=
XM_017013978.2:c.1530T>C	XP_016869467.1:p.Ala510=
XM_017013979.2:c.975T>C	XP_016869468.1:p.Ala325=
XM_024447332.1:c.948T>C	XP_024303100.1:p.Ala316=
XM_024447333.1:c.894T>C	XP_024303101.1:p.Ala298=
NM_145201.6:c.1574T>C MANE Select	NP_660202.3:p.Leu525Pro
NM_001286829.2:c.1535T>C	NP_001273758.1:p.Leu512Pro