Canonical Allele Identifier: CA346928572

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55894134G>A (hg19) ; chr2:g.55666999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666999G>A , CM000664.2:g.55666999G>A	GRCh38
NC_000002.11:g.55894134G>A , CM000664.1:g.55894134G>A	GRCh37
NC_000002.10:g.55747638G>A	NCBI36
NG_033012.1:g.31912C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1168C>T MANE Select	ENSP00000400646.2:p.Gln390Ter
ENST00000260604.8:c.*723C>T	ENSP00000260604.4:n.*723C>T
ENST00000415374.5:c.1168C>T	ENSP00000393953.1:p.Gln390Ter
ENST00000415489.1:c.242C>T
ENST00000447944.6:c.1168C>T	ENSP00000400646.2:p.Gln390Ter
NM_033109.4:c.1168C>T	NP_149100.2:p.Gln390Ter
XM_005264629.1:c.928C>T	XP_005264686.1:p.Gln310Ter
XM_011533142.1:c.1168C>T	XP_011531444.1:p.Gln390Ter
XM_005264629.2:c.928C>T	XP_005264686.1:p.Gln310Ter
XM_017005172.1:c.928C>T	XP_016860661.1:p.Gln310Ter
XR_001739010.1:n.1198C>T
NM_033109.5:c.1168C>T MANE Select	NP_149100.2:p.Gln390Ter