Canonical Allele Identifier: CA2750012649

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666857A>C , CM000664.2:g.55666857A>C	GRCh38
NC_000002.11:g.55893992A>C , CM000664.1:g.55893992A>C	GRCh37
NC_000002.10:g.55747496A>C	NCBI36
NG_033012.1:g.32054T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+134T>G MANE Select	ENSP00000400646.2:n.1176+134T>G
ENST00000260604.8:c.*731+134T>G	ENSP00000260604.4:n.*731+134T>G
ENST00000415374.5:c.1176+134T>G	ENSP00000393953.1:n.1176+134T>G
ENST00000415489.1:c.250+134T>G
ENST00000447944.6:c.1176+134T>G	ENSP00000400646.2:n.1176+134T>G
NM_033109.4:c.1176+134T>G	NP_149100.2:n.1176+134T>G
XM_005264629.1:c.936+134T>G	XP_005264686.1:n.936+134T>G
XM_011533142.1:c.1176+134T>G	XP_011531444.1:n.1176+134T>G
XM_005264629.2:c.936+134T>G	XP_005264686.1:n.936+134T>G
XM_017005172.1:c.936+134T>G	XP_016860661.1:n.936+134T>G
XR_001739010.1:n.1206+134T>G
NM_033109.5:c.1176+134T>G MANE Select	NP_149100.2:n.1176+134T>G