Canonical Allele Identifier: CA346936994

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906832G>C (hg19) ; chr2:g.55679697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679697G>C , CM000664.2:g.55679697G>C	GRCh38
NC_000002.11:g.55906832G>C , CM000664.1:g.55906832G>C	GRCh37
NC_000002.10:g.55760336G>C	NCBI36
NG_033012.1:g.19214C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.664C>G MANE Select	ENSP00000400646.2:p.Pro222Ala
ENST00000260604.8:c.*219C>G	ENSP00000260604.4:n.*219C>G
ENST00000415374.5:c.664C>G	ENSP00000393953.1:p.Pro222Ala
ENST00000429805.1:c.*312C>G	ENSP00000411994.1:n.*312C>G
ENST00000447944.6:c.664C>G	ENSP00000400646.2:p.Pro222Ala
NM_033109.4:c.664C>G	NP_149100.2:p.Pro222Ala
XM_005264629.1:c.424C>G	XP_005264686.1:p.Pro142Ala
XM_011533142.1:c.664C>G	XP_011531444.1:p.Pro222Ala
XM_005264629.2:c.424C>G	XP_005264686.1:p.Pro142Ala
XM_017005172.1:c.424C>G	XP_016860661.1:p.Pro142Ala
XR_001739010.1:n.694C>G
NM_033109.5:c.664C>G MANE Select	NP_149100.2:p.Pro222Ala