Canonical Allele Identifier: CA346932318

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55899164A>G (hg19) ; chr2:g.55672029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672029A>G , CM000664.2:g.55672029A>G	GRCh38
NC_000002.11:g.55899164A>G , CM000664.1:g.55899164A>G	GRCh37
NC_000002.10:g.55752668A>G	NCBI36
NG_033012.1:g.26882T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.884T>C MANE Select	ENSP00000400646.2:p.Leu295Pro
ENST00000260604.8:c.*439T>C	ENSP00000260604.4:n.*439T>C
ENST00000415374.5:c.884T>C	ENSP00000393953.1:p.Leu295Pro
ENST00000447944.6:c.884T>C	ENSP00000400646.2:p.Leu295Pro
NM_033109.4:c.884T>C	NP_149100.2:p.Leu295Pro
XM_005264629.1:c.644T>C	XP_005264686.1:p.Leu215Pro
XM_011533142.1:c.884T>C	XP_011531444.1:p.Leu295Pro
XM_005264629.2:c.644T>C	XP_005264686.1:p.Leu215Pro
XM_017005172.1:c.644T>C	XP_016860661.1:p.Leu215Pro
XR_001739010.1:n.914T>C
NM_033109.5:c.884T>C MANE Select	NP_149100.2:p.Leu295Pro