Canonical Allele Identifier: CA346937175

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906848T>G (hg19) ; chr2:g.55679713T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679713T>G , CM000664.2:g.55679713T>G	GRCh38
NC_000002.11:g.55906848T>G , CM000664.1:g.55906848T>G	GRCh37
NC_000002.10:g.55760352T>G	NCBI36
NG_033012.1:g.19198A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.648A>C MANE Select	ENSP00000400646.2:p.Leu216Phe
ENST00000260604.8:c.*203A>C	ENSP00000260604.4:n.*203A>C
ENST00000415374.5:c.648A>C	ENSP00000393953.1:p.Leu216Phe
ENST00000429805.1:c.*296A>C	ENSP00000411994.1:n.*296A>C
ENST00000447944.6:c.648A>C	ENSP00000400646.2:p.Leu216Phe
NM_033109.4:c.648A>C	NP_149100.2:p.Leu216Phe
XM_005264629.1:c.408A>C	XP_005264686.1:p.Leu136Phe
XM_011533142.1:c.648A>C	XP_011531444.1:p.Leu216Phe
XM_005264629.2:c.408A>C	XP_005264686.1:p.Leu136Phe
XM_017005172.1:c.408A>C	XP_016860661.1:p.Leu136Phe
XR_001739010.1:n.678A>C
NM_033109.5:c.648A>C MANE Select	NP_149100.2:p.Leu216Phe