Canonical Allele Identifier: CA463375804

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657065C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574895C>G , CM000670.2:g.143574895C>G	GRCh38
NC_000008.10:g.144657065C>G , CM000670.1:g.144657065C>G	GRCh37
NC_000008.9:g.144728208C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1560G>C MANE Select	ENSP00000401508.2:p.Val520=
ENST00000340490.7:c.1645G>C	ENSP00000341136.3:p.Ala549Pro
ENST00000426292.7:c.1521G>C	ENSP00000390949.3:p.Val507=
ENST00000435154.7:c.*269G>C	ENSP00000405670.3:n.*269G>C
ENST00000449291.6:c.1560G>C	ENSP00000401508.2:p.Val520=
ENST00000460623.5:c.584G>C
ENST00000464332.5:n.1104G>C
ENST00000498076.5:n.339G>C
ENST00000529179.1:n.344G>C
NM_001286829.1:c.1521G>C	NP_001273758.1:p.Val507=
NM_145201.5:c.1560G>C	NP_660202.3:p.Val520=
XM_011517377.1:c.1297G>C	XP_011515679.1:p.Ala433Pro
NM_001363145.1:c.1479G>C	NP_001350074.1:p.Val493=
NM_001363146.1:c.876G>C	NP_001350075.1:p.Val292=
XM_017013975.2:c.1864G>C	XP_016869464.1:p.Ala622Pro
XM_017013976.2:c.1779G>C	XP_016869465.1:p.Val593=
XM_017013977.2:c.1564G>C	XP_016869466.1:p.Ala522Pro
XM_017013978.2:c.1516G>C	XP_016869467.1:p.Ala506Pro
XM_017013979.2:c.961G>C	XP_016869468.1:p.Ala321Pro
XM_024447332.1:c.934G>C	XP_024303100.1:p.Ala312Pro
XM_024447333.1:c.880G>C	XP_024303101.1:p.Ala294Pro
NM_145201.6:c.1560G>C MANE Select	NP_660202.3:p.Val520=
NM_001286829.2:c.1521G>C	NP_001273758.1:p.Val507=