Canonical Allele Identifier: CA2659132319

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55647222-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647222C>A , CM000664.2:g.55647222C>A	GRCh38
NC_000002.11:g.55874357C>A , CM000664.1:g.55874357C>A	GRCh37
NC_000002.10:g.55727861C>A	NCBI36
NG_033012.1:g.51689G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1602+125G>T MANE Select	ENSP00000400646.2:n.1602+125G>T
ENST00000260604.8:c.*1157+125G>T	ENSP00000260604.4:n.*1157+125G>T
ENST00000415374.5:c.1602+125G>T	ENSP00000393953.1:n.1602+125G>T
ENST00000447944.6:c.1602+125G>T	ENSP00000400646.2:n.1602+125G>T
ENST00000481066.1:n.36+125G>T
NM_033109.4:c.1602+125G>T	NP_149100.2:n.1602+125G>T
XM_005264629.1:c.1362+125G>T	XP_005264686.1:n.1362+125G>T
XM_005264629.2:c.1362+125G>T	XP_005264686.1:n.1362+125G>T
XM_017005172.1:c.1362+125G>T	XP_016860661.1:n.1362+125G>T
XR_001739010.1:n.1679+125G>T
NM_033109.5:c.1602+125G>T MANE Select	NP_149100.2:n.1602+125G>T