Canonical Allele Identifier: CA346936954

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906831G>A (hg19) ; chr2:g.55679696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679696G>A , CM000664.2:g.55679696G>A	GRCh38
NC_000002.11:g.55906831G>A , CM000664.1:g.55906831G>A	GRCh37
NC_000002.10:g.55760335G>A	NCBI36
NG_033012.1:g.19215C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.665C>T MANE Select	ENSP00000400646.2:p.Pro222Leu
ENST00000260604.8:c.*220C>T	ENSP00000260604.4:n.*220C>T
ENST00000415374.5:c.665C>T	ENSP00000393953.1:p.Pro222Leu
ENST00000429805.1:c.*313C>T	ENSP00000411994.1:n.*313C>T
ENST00000447944.6:c.665C>T	ENSP00000400646.2:p.Pro222Leu
NM_033109.4:c.665C>T	NP_149100.2:p.Pro222Leu
XM_005264629.1:c.425C>T	XP_005264686.1:p.Pro142Leu
XM_011533142.1:c.665C>T	XP_011531444.1:p.Pro222Leu
XM_005264629.2:c.425C>T	XP_005264686.1:p.Pro142Leu
XM_017005172.1:c.425C>T	XP_016860661.1:p.Pro142Leu
XR_001739010.1:n.695C>T
NM_033109.5:c.665C>T MANE Select	NP_149100.2:p.Pro222Leu