Canonical Allele Identifier: CA346943308

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55687707T>G , CM000664.2:g.55687707T>G	GRCh38
NC_000002.11:g.55914842T>G , CM000664.1:g.55914842T>G	GRCh37
NC_000002.10:g.55768346T>G	NCBI36
NG_033012.1:g.11204A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033109.5:c.162-2A>C MANE Select	NP_149100.2:n.162-2A>C
ENST00000447944.7:c.162-2A>C MANE Select	ENSP00000400646.2:n.162-2A>C
NM_033109.4:c.162-2A>C	NP_149100.2:n.162-2A>C
ENST00000260604.8:c.162-2A>C	ENSP00000260604.4:n.162-2A>C
ENST00000415374.5:c.162-2A>C	ENSP00000393953.1:n.162-2A>C
ENST00000429805.1:c.162-2659A>C	ENSP00000411994.1:n.162-2659A>C
ENST00000447944.6:c.162-2A>C	ENSP00000400646.2:n.162-2A>C
ENST00000625249.1:c.162-2659A>C	ENSP00000486227.1:n.162-2659A>C
XM_005264629.1:c.-75-2A>C	XP_005264686.1:n.-75-2A>C
XM_005264629.2:c.-75-2A>C	XP_005264686.1:n.-75-2A>C
XM_011533142.1:c.162-2A>C	XP_011531444.1:n.162-2A>C
XM_017005172.1:c.-18-1263A>C	XP_016860661.1:n.-18-1263A>C
XR_001739010.1:n.192-2A>C