Canonical Allele Identifier: CA426175292

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906842A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679707A>T , CM000664.2:g.55679707A>T	GRCh38
NC_000002.11:g.55906842A>T , CM000664.1:g.55906842A>T	GRCh37
NC_000002.10:g.55760346A>T	NCBI36
NG_033012.1:g.19204T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.654T>A MANE Select	ENSP00000400646.2:p.Val218=
ENST00000260604.8:c.*209T>A	ENSP00000260604.4:n.*209T>A
ENST00000415374.5:c.654T>A	ENSP00000393953.1:p.Val218=
ENST00000429805.1:c.*302T>A	ENSP00000411994.1:n.*302T>A
ENST00000447944.6:c.654T>A	ENSP00000400646.2:p.Val218=
NM_033109.4:c.654T>A	NP_149100.2:p.Val218=
XM_005264629.1:c.414T>A	XP_005264686.1:p.Val138=
XM_011533142.1:c.654T>A	XP_011531444.1:p.Val218=
XM_005264629.2:c.414T>A	XP_005264686.1:p.Val138=
XM_017005172.1:c.414T>A	XP_016860661.1:p.Val138=
XR_001739010.1:n.684T>A
NM_033109.5:c.654T>A MANE Select	NP_149100.2:p.Val218=