Canonical Allele Identifier: CA346938840

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55907989C>A (hg19) ; chr2:g.55680854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680854C>A , CM000664.2:g.55680854C>A	GRCh38
NC_000002.11:g.55907989C>A , CM000664.1:g.55907989C>A	GRCh37
NC_000002.10:g.55761493C>A	NCBI36
NG_033012.1:g.18057G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+1G>T MANE Select	ENSP00000400646.2:n.517+1G>T
ENST00000260604.8:c.518G>T	ENSP00000260604.4:p.Gly173Val
ENST00000415374.5:c.517+1G>T	ENSP00000393953.1:n.517+1G>T
ENST00000429805.1:c.*165+1G>T	ENSP00000411994.1:n.*165+1G>T
ENST00000447944.6:c.517+1G>T	ENSP00000400646.2:n.517+1G>T
NM_033109.4:c.517+1G>T	NP_149100.2:n.517+1G>T
XM_005264629.1:c.277+1G>T	XP_005264686.1:n.277+1G>T
XM_011533142.1:c.517+1G>T	XP_011531444.1:n.517+1G>T
XM_005264629.2:c.277+1G>T	XP_005264686.1:n.277+1G>T
XM_017005172.1:c.277+1G>T	XP_016860661.1:n.277+1G>T
XR_001739010.1:n.547+1G>T
NM_033109.5:c.517+1G>T MANE Select	NP_149100.2:n.517+1G>T