Canonical Allele Identifier: CA346943245

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55687689A>G , CM000664.2:g.55687689A>G	GRCh38
NC_000002.11:g.55914824A>G , CM000664.1:g.55914824A>G	GRCh37
NC_000002.10:g.55768328A>G	NCBI36
NG_033012.1:g.11222T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033109.5:c.178T>C MANE Select	NP_149100.2:p.Ser60Pro
ENST00000447944.7:c.178T>C MANE Select	ENSP00000400646.2:p.Ser60Pro
NM_033109.4:c.178T>C	NP_149100.2:p.Ser60Pro
ENST00000260604.8:c.178T>C	ENSP00000260604.4:p.Ser60Pro
ENST00000415374.5:c.178T>C	ENSP00000393953.1:p.Ser60Pro
ENST00000429805.1:c.162-2641T>C	ENSP00000411994.1:n.162-2641T>C
ENST00000447944.6:c.178T>C	ENSP00000400646.2:p.Ser60Pro
ENST00000625249.1:c.162-2641T>C	ENSP00000486227.1:n.162-2641T>C
XM_005264629.1:c.-59T>C	XP_005264686.1:n.-59T>C
XM_005264629.2:c.-59T>C	XP_005264686.1:n.-59T>C
XM_011533142.1:c.178T>C	XP_011531444.1:p.Ser60Pro
XM_017005172.1:c.-18-1245T>C	XP_016860661.1:n.-18-1245T>C
XR_001739010.1:n.208T>C