Canonical Allele Identifier: CA1667950

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55645415A>G , CM000664.2:g.55645415A>G	GRCh38
NC_000002.11:g.55872550A>G , CM000664.1:g.55872550A>G	GRCh37
NC_000002.10:g.55726054A>G	NCBI36
NG_033012.1:g.53496T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033109.5:c.1756T>C MANE Select	NP_149100.2:p.Leu586=
ENST00000447944.7:c.1756T>C MANE Select	ENSP00000400646.2:p.Leu586=
NM_033109.4:c.1756T>C	NP_149100.2:p.Leu586=
ENST00000260604.8:c.*1311T>C	ENSP00000260604.4:n.*1311T>C
ENST00000415374.5:c.1756T>C	ENSP00000393953.1:p.Leu586=
ENST00000447944.6:c.1756T>C	ENSP00000400646.2:p.Leu586=
ENST00000481066.1:n.190T>C
XM_005264629.1:c.1516T>C	XP_005264686.1:p.Leu506=
XM_005264629.2:c.1516T>C	XP_005264686.1:p.Leu506=
XM_017005172.1:c.1516T>C	XP_016860661.1:p.Leu506=
XR_001739010.1:n.1833T>C