Canonical Allele Identifier: CA1252387915

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647438G= , CM000664.2:g.55647438G=	GRCh38
NC_000002.11:g.55874573G= , CM000664.1:g.55874573G=	GRCh37
NC_000002.10:g.55728077G=	NCBI36
NG_033012.1:g.51473C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1511C= MANE Select	ENSP00000400646.2:p.Ser504=
ENST00000260604.8:c.*1066C=	ENSP00000260604.4:n.*1066C=
ENST00000415374.5:c.1511C=	ENSP00000393953.1:p.Ser504=
ENST00000415489.1:c.518C=
ENST00000447944.6:c.1511C=	ENSP00000400646.2:p.Ser504=
NM_033109.4:c.1511C=	NP_149100.2:p.Ser504=
XM_005264629.1:c.1271C=	XP_005264686.1:p.Ser424=
XM_011533142.1:c.*43C=	XP_011531444.1:n.*43C=
XM_005264629.2:c.1271C=	XP_005264686.1:p.Ser424=
XM_017005172.1:c.1271C=	XP_016860661.1:p.Ser424=
XR_001739010.1:n.1588C=
NM_033109.5:c.1511C= MANE Select	NP_149100.2:p.Ser504=