Canonical Allele Identifier: CA372448662

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657070C>G (hg19) ; chr8:g.143574900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574900C>G , CM000670.2:g.143574900C>G	GRCh38
NC_000008.10:g.144657070C>G , CM000670.1:g.144657070C>G	GRCh37
NC_000008.9:g.144728213C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555G>C MANE Select	ENSP00000401508.2:p.Val519Leu
ENST00000340490.7:c.1640G>C	ENSP00000341136.3:p.Gly547Ala
ENST00000426292.7:c.1516G>C	ENSP00000390949.3:p.Val506Leu
ENST00000435154.7:c.*264G>C	ENSP00000405670.3:n.*264G>C
ENST00000449291.6:c.1555G>C	ENSP00000401508.2:p.Val519Leu
ENST00000460623.5:c.579G>C
ENST00000464332.5:n.1099G>C
ENST00000498076.5:n.334G>C
ENST00000529179.1:n.339G>C
NM_001286829.1:c.1516G>C	NP_001273758.1:p.Val506Leu
NM_145201.5:c.1555G>C	NP_660202.3:p.Val519Leu
XM_011517377.1:c.1292G>C	XP_011515679.1:p.Gly431Ala
NM_001363145.1:c.1474G>C	NP_001350074.1:p.Val492Leu
NM_001363146.1:c.871G>C	NP_001350075.1:p.Val291Leu
XM_017013975.2:c.1859G>C	XP_016869464.1:p.Gly620Ala
XM_017013976.2:c.1774G>C	XP_016869465.1:p.Val592Leu
XM_017013977.2:c.1559G>C	XP_016869466.1:p.Gly520Ala
XM_017013978.2:c.1511G>C	XP_016869467.1:p.Gly504Ala
XM_017013979.2:c.956G>C	XP_016869468.1:p.Gly319Ala
XM_024447332.1:c.929G>C	XP_024303100.1:p.Gly310Ala
XM_024447333.1:c.875G>C	XP_024303101.1:p.Gly292Ala
NM_145201.6:c.1555G>C MANE Select	NP_660202.3:p.Val519Leu
NM_001286829.2:c.1516G>C	NP_001273758.1:p.Val506Leu