Canonical Allele Identifier: CA346938876

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55908007A>G (hg19) ; chr2:g.55680872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680872A>G , CM000664.2:g.55680872A>G	GRCh38
NC_000002.11:g.55908007A>G , CM000664.1:g.55908007A>G	GRCh37
NC_000002.10:g.55761511A>G	NCBI36
NG_033012.1:g.18039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.500T>C MANE Select	ENSP00000400646.2:p.Val167Ala
ENST00000260604.8:c.500T>C	ENSP00000260604.4:p.Val167Ala
ENST00000415374.5:c.500T>C	ENSP00000393953.1:p.Val167Ala
ENST00000429805.1:c.*148T>C	ENSP00000411994.1:n.*148T>C
ENST00000447944.6:c.500T>C	ENSP00000400646.2:p.Val167Ala
NM_033109.4:c.500T>C	NP_149100.2:p.Val167Ala
XM_005264629.1:c.260T>C	XP_005264686.1:p.Val87Ala
XM_011533142.1:c.500T>C	XP_011531444.1:p.Val167Ala
XM_005264629.2:c.260T>C	XP_005264686.1:p.Val87Ala
XM_017005172.1:c.260T>C	XP_016860661.1:p.Val87Ala
XR_001739010.1:n.530T>C
NM_033109.5:c.500T>C MANE Select	NP_149100.2:p.Val167Ala