Canonical Allele Identifier: CA47665084

Gene: PNPT1

Linked Data

• dbSNP Id: rs200784773
• gnomAD v3: 2-55680915-G-A
• gnomAD v4: 2-55680915-G-A
• MyVariant Identifiers: chr2:g.55908050G>A (hg19) ; chr2:g.55680915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680915G>A , CM000664.2:g.55680915G>A	GRCh38
NC_000002.11:g.55908050G>A , CM000664.1:g.55908050G>A	GRCh37
NC_000002.10:g.55761554G>A	NCBI36
NG_033012.1:g.17996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.457C>T MANE Select	ENSP00000400646.2:p.Leu153=
ENST00000260604.8:c.457C>T	ENSP00000260604.4:p.Leu153=
ENST00000415374.5:c.457C>T	ENSP00000393953.1:p.Leu153=
ENST00000429805.1:c.*105C>T	ENSP00000411994.1:n.*105C>T
ENST00000447944.6:c.457C>T	ENSP00000400646.2:p.Leu153=
NM_033109.4:c.457C>T	NP_149100.2:p.Leu153=
XM_005264629.1:c.217C>T	XP_005264686.1:p.Leu73=
XM_011533142.1:c.457C>T	XP_011531444.1:p.Leu153=
XM_005264629.2:c.217C>T	XP_005264686.1:p.Leu73=
XM_017005172.1:c.217C>T	XP_016860661.1:p.Leu73=
XR_001739010.1:n.487C>T
NM_033109.5:c.457C>T MANE Select	NP_149100.2:p.Leu153=