Canonical Allele Identifier: CA1144228737

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074094C= , CM000663.2:g.40074094C=	GRCh38
NC_000001.10:g.40539766C= , CM000663.1:g.40539766C=	GRCh37
NC_000001.9:g.40312353C=	NCBI36
NG_009192.1:g.28377G= , LRG_690:g.28377G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.885G=	ENSP00000394863.4:p.Trp295=
ENST00000439754.6:c.816G=	ENSP00000403207.2:p.Trp272=
ENST00000449045.7:c.579G=	ENSP00000392293.2:p.Trp193=
ENST00000530076.6:c.231G=	ENSP00000434007.1:p.Trp77=
ENST00000530704.6:c.*511G=	ENSP00000431655.1:n.*511G=
ENST00000641083.1:c.978G=
ENST00000641236.1:n.1125G=
ENST00000641319.1:c.*98G=	ENSP00000493128.1:n.*98G=
ENST00000641381.1:c.310G=
ENST00000641471.1:c.975G=	ENSP00000493146.1:p.Trp325=
ENST00000641691.1:c.*740G=	ENSP00000492910.1:n.*740G=
ENST00000641924.1:c.*317G=	ENSP00000493063.1:n.*317G=
ENST00000642050.2:c.888G= MANE Select	ENSP00000493153.1:p.Trp296=
ENST00000372775.2:n.285G=
ENST00000433473.7:c.888G=	ENSP00000394863.3:p.Trp296=
ENST00000439754.5:c.501G=	ENSP00000403207.1:p.Trp167=
ENST00000449045.6:c.579G=	ENSP00000392293.2:p.Trp193=
ENST00000529905.5:c.888G=	ENSP00000432053.1:p.Trp296=
ENST00000530076.5:c.231G=	ENSP00000434007.1:p.Trp77=
ENST00000530704.5:c.*511G=	ENSP00000431655.1:n.*511G=
NM_000310.3:c.888G= , LRG_690t1:c.888G=	NP_000301.1:p.Trp296=
NM_001142604.1:c.579G=	NP_001136076.1:p.Trp193=
XM_005271008.1:c.816G=	XP_005271065.1:p.Trp272=
NM_001363695.1:c.816G=	NP_001350624.1:p.Trp272=
NM_000310.4:c.888G= MANE Select	NP_000301.1:p.Trp296=
NM_001142604.2:c.579G=	NP_001136076.1:p.Trp193=
NM_001363695.2:c.816G=	NP_001350624.1:p.Trp272=