Canonical Allele Identifier: CA2699294088

Gene: PNPT1

Linked Data

• dbSNP Id: rs2104106248

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666863C>T , CM000664.2:g.55666863C>T	GRCh38
NC_000002.11:g.55893998C>T , CM000664.1:g.55893998C>T	GRCh37
NC_000002.10:g.55747502C>T	NCBI36
NG_033012.1:g.32048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+128G>A MANE Select	ENSP00000400646.2:n.1176+128G>A
ENST00000260604.8:c.*731+128G>A	ENSP00000260604.4:n.*731+128G>A
ENST00000415374.5:c.1176+128G>A	ENSP00000393953.1:n.1176+128G>A
ENST00000415489.1:c.250+128G>A
ENST00000447944.6:c.1176+128G>A	ENSP00000400646.2:n.1176+128G>A
NM_033109.4:c.1176+128G>A	NP_149100.2:n.1176+128G>A
XM_005264629.1:c.936+128G>A	XP_005264686.1:n.936+128G>A
XM_011533142.1:c.1176+128G>A	XP_011531444.1:n.1176+128G>A
XM_005264629.2:c.936+128G>A	XP_005264686.1:n.936+128G>A
XM_017005172.1:c.936+128G>A	XP_016860661.1:n.936+128G>A
XR_001739010.1:n.1206+128G>A
NM_033109.5:c.1176+128G>A MANE Select	NP_149100.2:n.1176+128G>A