Canonical Allele Identifier: CA426175295

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906845C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679710C>G , CM000664.2:g.55679710C>G	GRCh38
NC_000002.11:g.55906845C>G , CM000664.1:g.55906845C>G	GRCh37
NC_000002.10:g.55760349C>G	NCBI36
NG_033012.1:g.19201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.651G>C MANE Select	ENSP00000400646.2:p.Val217=
ENST00000260604.8:c.*206G>C	ENSP00000260604.4:n.*206G>C
ENST00000415374.5:c.651G>C	ENSP00000393953.1:p.Val217=
ENST00000429805.1:c.*299G>C	ENSP00000411994.1:n.*299G>C
ENST00000447944.6:c.651G>C	ENSP00000400646.2:p.Val217=
NM_033109.4:c.651G>C	NP_149100.2:p.Val217=
XM_005264629.1:c.411G>C	XP_005264686.1:p.Val137=
XM_011533142.1:c.651G>C	XP_011531444.1:p.Val217=
XM_005264629.2:c.411G>C	XP_005264686.1:p.Val137=
XM_017005172.1:c.411G>C	XP_016860661.1:p.Val137=
XR_001739010.1:n.681G>C
NM_033109.5:c.651G>C MANE Select	NP_149100.2:p.Val217=