Canonical Allele Identifier: CA463375783

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657050C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574880C>G , CM000670.2:g.143574880C>G	GRCh38
NC_000008.10:g.144657050C>G , CM000670.1:g.144657050C>G	GRCh37
NC_000008.9:g.144728193C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1575G>C MANE Select	ENSP00000401508.2:p.Leu525=
ENST00000340490.7:c.1660G>C	ENSP00000341136.3:p.Ala554Pro
ENST00000426292.7:c.1536G>C	ENSP00000390949.3:p.Leu512=
ENST00000435154.7:c.*284G>C	ENSP00000405670.3:n.*284G>C
ENST00000449291.6:c.1575G>C	ENSP00000401508.2:p.Leu525=
ENST00000460623.5:c.599G>C
ENST00000464332.5:n.1119G>C
ENST00000498076.5:n.354G>C
ENST00000529179.1:n.359G>C
NM_001286829.1:c.1536G>C	NP_001273758.1:p.Leu512=
NM_145201.5:c.1575G>C	NP_660202.3:p.Leu525=
XM_011517377.1:c.1312G>C	XP_011515679.1:p.Ala438Pro
NM_001363145.1:c.1494G>C	NP_001350074.1:p.Leu498=
NM_001363146.1:c.891G>C	NP_001350075.1:p.Leu297=
XM_017013975.2:c.1879G>C	XP_016869464.1:p.Ala627Pro
XM_017013976.2:c.1794G>C	XP_016869465.1:p.Leu598=
XM_017013977.2:c.1579G>C	XP_016869466.1:p.Ala527Pro
XM_017013978.2:c.1531G>C	XP_016869467.1:p.Ala511Pro
XM_017013979.2:c.976G>C	XP_016869468.1:p.Ala326Pro
XM_024447332.1:c.949G>C	XP_024303100.1:p.Ala317Pro
XM_024447333.1:c.895G>C	XP_024303101.1:p.Ala299Pro
NM_145201.6:c.1575G>C MANE Select	NP_660202.3:p.Leu525=
NM_001286829.2:c.1536G>C	NP_001273758.1:p.Leu512=