Canonical Allele Identifier: CA346938041

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906921C>A (hg19) ; chr2:g.55679786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679786C>A , CM000664.2:g.55679786C>A	GRCh38
NC_000002.11:g.55906921C>A , CM000664.1:g.55906921C>A	GRCh37
NC_000002.10:g.55760425C>A	NCBI36
NG_033012.1:g.19125G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.575G>T MANE Select	ENSP00000400646.2:p.Arg192Leu
ENST00000260604.8:c.*130G>T	ENSP00000260604.4:n.*130G>T
ENST00000415374.5:c.575G>T	ENSP00000393953.1:p.Arg192Leu
ENST00000429805.1:c.*223G>T	ENSP00000411994.1:n.*223G>T
ENST00000447944.6:c.575G>T	ENSP00000400646.2:p.Arg192Leu
NM_033109.4:c.575G>T	NP_149100.2:p.Arg192Leu
XM_005264629.1:c.335G>T	XP_005264686.1:p.Arg112Leu
XM_011533142.1:c.575G>T	XP_011531444.1:p.Arg192Leu
XM_005264629.2:c.335G>T	XP_005264686.1:p.Arg112Leu
XM_017005172.1:c.335G>T	XP_016860661.1:p.Arg112Leu
XR_001739010.1:n.605G>T
NM_033109.5:c.575G>T MANE Select	NP_149100.2:p.Arg192Leu