Canonical Allele Identifier: CA346928581

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55667003-T-A
• MyVariant Identifiers: chr2:g.55894138T>A (hg19) ; chr2:g.55667003T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667003T>A , CM000664.2:g.55667003T>A	GRCh38
NC_000002.11:g.55894138T>A , CM000664.1:g.55894138T>A	GRCh37
NC_000002.10:g.55747642T>A	NCBI36
NG_033012.1:g.31908A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1164A>T MANE Select	ENSP00000400646.2:p.Arg388Ser
ENST00000260604.8:c.*719A>T	ENSP00000260604.4:n.*719A>T
ENST00000415374.5:c.1164A>T	ENSP00000393953.1:p.Arg388Ser
ENST00000415489.1:c.238A>T
ENST00000447944.6:c.1164A>T	ENSP00000400646.2:p.Arg388Ser
NM_033109.4:c.1164A>T	NP_149100.2:p.Arg388Ser
XM_005264629.1:c.924A>T	XP_005264686.1:p.Arg308Ser
XM_011533142.1:c.1164A>T	XP_011531444.1:p.Arg388Ser
XM_005264629.2:c.924A>T	XP_005264686.1:p.Arg308Ser
XM_017005172.1:c.924A>T	XP_016860661.1:p.Arg308Ser
XR_001739010.1:n.1194A>T
NM_033109.5:c.1164A>T MANE Select	NP_149100.2:p.Arg388Ser