Canonical Allele Identifier: CA372448632

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657064G>C (hg19) ; chr8:g.143574894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574894G>C , CM000670.2:g.143574894G>C	GRCh38
NC_000008.10:g.144657064G>C , CM000670.1:g.144657064G>C	GRCh37
NC_000008.9:g.144728207G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1561C>G MANE Select	ENSP00000401508.2:p.Leu521Val
ENST00000340490.7:c.1646C>G	ENSP00000341136.3:p.Ala549Gly
ENST00000426292.7:c.1522C>G	ENSP00000390949.3:p.Leu508Val
ENST00000435154.7:c.*270C>G	ENSP00000405670.3:n.*270C>G
ENST00000449291.6:c.1561C>G	ENSP00000401508.2:p.Leu521Val
ENST00000460623.5:c.585C>G
ENST00000464332.5:n.1105C>G
ENST00000498076.5:n.340C>G
ENST00000529179.1:n.345C>G
NM_001286829.1:c.1522C>G	NP_001273758.1:p.Leu508Val
NM_145201.5:c.1561C>G	NP_660202.3:p.Leu521Val
XM_011517377.1:c.1298C>G	XP_011515679.1:p.Ala433Gly
NM_001363145.1:c.1480C>G	NP_001350074.1:p.Leu494Val
NM_001363146.1:c.877C>G	NP_001350075.1:p.Leu293Val
XM_017013975.2:c.1865C>G	XP_016869464.1:p.Ala622Gly
XM_017013976.2:c.1780C>G	XP_016869465.1:p.Leu594Val
XM_017013977.2:c.1565C>G	XP_016869466.1:p.Ala522Gly
XM_017013978.2:c.1517C>G	XP_016869467.1:p.Ala506Gly
XM_017013979.2:c.962C>G	XP_016869468.1:p.Ala321Gly
XM_024447332.1:c.935C>G	XP_024303100.1:p.Ala312Gly
XM_024447333.1:c.881C>G	XP_024303101.1:p.Ala294Gly
NM_145201.6:c.1561C>G MANE Select	NP_660202.3:p.Leu521Val
NM_001286829.2:c.1522C>G	NP_001273758.1:p.Leu508Val