Canonical Allele Identifier: CA2659131624

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55656093-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55656093G>T , CM000664.2:g.55656093G>T	GRCh38
NC_000002.11:g.55883228G>T , CM000664.1:g.55883228G>T	GRCh37
NC_000002.10:g.55736732G>T	NCBI36
NG_033012.1:g.42818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1441+38C>A MANE Select	ENSP00000400646.2:n.1441+38C>A
ENST00000260604.8:c.*996+38C>A	ENSP00000260604.4:n.*996+38C>A
ENST00000415374.5:c.1441+38C>A	ENSP00000393953.1:n.1441+38C>A
ENST00000415489.1:c.448+38C>A
ENST00000447944.6:c.1441+38C>A	ENSP00000400646.2:n.1441+38C>A
NM_033109.4:c.1441+38C>A	NP_149100.2:n.1441+38C>A
XM_005264629.1:c.1201+38C>A	XP_005264686.1:n.1201+38C>A
XM_011533142.1:c.1441+38C>A	XP_011531444.1:n.1441+38C>A
XM_005264629.2:c.1201+38C>A	XP_005264686.1:n.1201+38C>A
XM_017005172.1:c.1201+38C>A	XP_016860661.1:n.1201+38C>A
XR_001739010.1:n.1471+38C>A
NM_033109.5:c.1441+38C>A MANE Select	NP_149100.2:n.1441+38C>A