Canonical Allele Identifier: CA187546589

Gene: NAPRT

Linked Data

• dbSNP Id: rs963159337
• gnomAD v2: 8-144657042-A-G
• gnomAD v3: 8-143574872-A-G
• gnomAD v4: 8-143574872-A-G
• MyVariant Identifiers: chr8:g.144657042A>G (hg19) ; chr8:g.143574872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574872A>G , CM000670.2:g.143574872A>G	GRCh38
NC_000008.10:g.144657042A>G , CM000670.1:g.144657042A>G	GRCh37
NC_000008.9:g.144728185A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1583T>C MANE Select	ENSP00000401508.2:p.Leu528Pro
ENST00000340490.7:c.1668T>C	ENSP00000341136.3:p.Pro556=
ENST00000426292.7:c.1544T>C	ENSP00000390949.3:p.Leu515Pro
ENST00000435154.7:c.*292T>C	ENSP00000405670.3:n.*292T>C
ENST00000449291.6:c.1583T>C	ENSP00000401508.2:p.Leu528Pro
ENST00000460623.5:c.607T>C
ENST00000464332.5:n.1127T>C
ENST00000498076.5:n.362T>C
ENST00000529179.1:n.367T>C
NM_001286829.1:c.1544T>C	NP_001273758.1:p.Leu515Pro
NM_145201.5:c.1583T>C	NP_660202.3:p.Leu528Pro
XM_011517377.1:c.1320T>C	XP_011515679.1:p.Pro440=
NM_001363145.1:c.1502T>C	NP_001350074.1:p.Leu501Pro
NM_001363146.1:c.899T>C	NP_001350075.1:p.Leu300Pro
XM_017013975.2:c.1887T>C	XP_016869464.1:p.Pro629=
XM_017013976.2:c.1802T>C	XP_016869465.1:p.Leu601Pro
XM_017013977.2:c.1587T>C	XP_016869466.1:p.Pro529=
XM_017013978.2:c.1539T>C	XP_016869467.1:p.Pro513=
XM_017013979.2:c.984T>C	XP_016869468.1:p.Pro328=
XM_024447332.1:c.957T>C	XP_024303100.1:p.Pro319=
XM_024447333.1:c.903T>C	XP_024303101.1:p.Pro301=
NM_145201.6:c.1583T>C MANE Select	NP_660202.3:p.Leu528Pro
NM_001286829.2:c.1544T>C	NP_001273758.1:p.Leu515Pro