Canonical Allele Identifier: CA1164243555

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074122C= , CM000663.2:g.40074122C=	GRCh38
NC_000001.10:g.40539794C= , CM000663.1:g.40539794C=	GRCh37
NC_000001.9:g.40312381C=	NCBI36
NG_009192.1:g.28349G= , LRG_690:g.28349G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.857G=	ENSP00000394863.4:p.Gly286=
ENST00000439754.6:c.788G=	ENSP00000403207.2:p.Gly263=
ENST00000449045.7:c.551G=	ENSP00000392293.2:p.Gly184=
ENST00000530076.6:c.203G=	ENSP00000434007.1:p.Gly68=
ENST00000530704.6:c.*483G=	ENSP00000431655.1:n.*483G=
ENST00000641083.1:c.950G=
ENST00000641236.1:n.1097G=
ENST00000641319.1:c.*70G=	ENSP00000493128.1:n.*70G=
ENST00000641381.1:c.282G=
ENST00000641471.1:c.947G=	ENSP00000493146.1:p.Gly316=
ENST00000641691.1:c.*712G=	ENSP00000492910.1:n.*712G=
ENST00000641924.1:c.*289G=	ENSP00000493063.1:n.*289G=
ENST00000642050.2:c.860G= MANE Select	ENSP00000493153.1:p.Gly287=
ENST00000372775.2:n.257G=
ENST00000433473.7:c.860G=	ENSP00000394863.3:p.Gly287=
ENST00000439754.5:c.473G=	ENSP00000403207.1:p.Gly158=
ENST00000449045.6:c.551G=	ENSP00000392293.2:p.Gly184=
ENST00000529905.5:c.860G=	ENSP00000432053.1:p.Gly287=
ENST00000530076.5:c.203G=	ENSP00000434007.1:p.Gly68=
ENST00000530704.5:c.*483G=	ENSP00000431655.1:n.*483G=
NM_000310.3:c.860G= , LRG_690t1:c.860G=	NP_000301.1:p.Gly287=
NM_001142604.1:c.551G=	NP_001136076.1:p.Gly184=
XM_005271008.1:c.788G=	XP_005271065.1:p.Gly263=
NM_001363695.1:c.788G=	NP_001350624.1:p.Gly263=
NM_000310.4:c.860G= MANE Select	NP_000301.1:p.Gly287=
NM_001142604.2:c.551G=	NP_001136076.1:p.Gly184=
NM_001363695.2:c.788G=	NP_001350624.1:p.Gly263=