Canonical Allele Identifier: CA372451149

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657644T>G (hg19) ; chr8:g.143575474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575474T>G , CM000670.2:g.143575474T>G	GRCh38
NC_000008.10:g.144657644T>G , CM000670.1:g.144657644T>G	GRCh37
NC_000008.9:g.144728787T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1240A>C MANE Select	ENSP00000401508.2:p.Lys414Gln
ENST00000340490.7:c.1240A>C	ENSP00000341136.3:p.Lys414Gln
ENST00000426292.7:c.1240A>C	ENSP00000390949.3:p.Lys414Gln
ENST00000435154.7:c.1240A>C	ENSP00000405670.3:p.Lys414Gln
ENST00000449291.6:c.1240A>C	ENSP00000401508.2:p.Lys414Gln
ENST00000460623.5:c.218A>C
ENST00000464332.5:n.784A>C
ENST00000525583.5:c.1024A>C
NM_001286829.1:c.1240A>C	NP_001273758.1:p.Lys414Gln
NM_145201.5:c.1240A>C	NP_660202.3:p.Lys414Gln
XM_011517377.1:c.1240A>C	XP_011515679.1:p.Lys414Gln
NM_001363145.1:c.1159A>C	NP_001350074.1:p.Lys387Gln
NM_001363146.1:c.556A>C	NP_001350075.1:p.Lys186Gln
XM_017013975.2:c.1459A>C	XP_016869464.1:p.Lys487Gln
XM_017013976.2:c.1459A>C	XP_016869465.1:p.Lys487Gln
XM_017013977.2:c.1159A>C	XP_016869466.1:p.Lys387Gln
XM_017013978.2:c.1459A>C	XP_016869467.1:p.Lys487Gln
XM_017013979.2:c.556A>C	XP_016869468.1:p.Lys186Gln
XM_024447332.1:c.877A>C	XP_024303100.1:p.Lys293Gln
XM_024447333.1:c.475A>C	XP_024303101.1:p.Lys159Gln
NM_145201.6:c.1240A>C MANE Select	NP_660202.3:p.Lys414Gln
NM_001286829.2:c.1240A>C	NP_001273758.1:p.Lys414Gln