Canonical Allele Identifier: CA346936828

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906823G>A (hg19) ; chr2:g.55679688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679688G>A , CM000664.2:g.55679688G>A	GRCh38
NC_000002.11:g.55906823G>A , CM000664.1:g.55906823G>A	GRCh37
NC_000002.10:g.55760327G>A	NCBI36
NG_033012.1:g.19223C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.673C>T MANE Select	ENSP00000400646.2:p.Gln225Ter
ENST00000260604.8:c.*228C>T	ENSP00000260604.4:n.*228C>T
ENST00000415374.5:c.673C>T	ENSP00000393953.1:p.Gln225Ter
ENST00000429805.1:c.*321C>T	ENSP00000411994.1:n.*321C>T
ENST00000447944.6:c.673C>T	ENSP00000400646.2:p.Gln225Ter
NM_033109.4:c.673C>T	NP_149100.2:p.Gln225Ter
XM_005264629.1:c.433C>T	XP_005264686.1:p.Gln145Ter
XM_011533142.1:c.673C>T	XP_011531444.1:p.Gln225Ter
XM_005264629.2:c.433C>T	XP_005264686.1:p.Gln145Ter
XM_017005172.1:c.433C>T	XP_016860661.1:p.Gln145Ter
XR_001739010.1:n.703C>T
NM_033109.5:c.673C>T MANE Select	NP_149100.2:p.Gln225Ter