Canonical Allele Identifier: CA1164243539

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074072A= , CM000663.2:g.40074072A=	GRCh38
NC_000001.10:g.40539744A= , CM000663.1:g.40539744A=	GRCh37
NC_000001.9:g.40312331A=	NCBI36
NG_009192.1:g.28399T= , LRG_690:g.28399T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.907T=	ENSP00000394863.4:p.Phe303=
ENST00000439754.6:c.838T=	ENSP00000403207.2:p.Phe280=
ENST00000449045.7:c.601T=	ENSP00000392293.2:p.Phe201=
ENST00000530076.6:c.253T=	ENSP00000434007.1:p.Phe85=
ENST00000530704.6:c.*533T=	ENSP00000431655.1:n.*533T=
ENST00000641083.1:c.1000T=
ENST00000641236.1:n.1147T=
ENST00000641319.1:c.*120T=	ENSP00000493128.1:n.*120T=
ENST00000641381.1:c.332T=
ENST00000641471.1:c.997T=	ENSP00000493146.1:p.Phe333=
ENST00000641691.1:c.*762T=	ENSP00000492910.1:n.*762T=
ENST00000641924.1:c.*339T=	ENSP00000493063.1:n.*339T=
ENST00000642050.2:c.910T= MANE Select	ENSP00000493153.1:p.Phe304=
ENST00000372775.2:n.307T=
ENST00000433473.7:c.910T=	ENSP00000394863.3:p.Phe304=
ENST00000439754.5:c.523T=	ENSP00000403207.1:p.Phe175=
ENST00000449045.6:c.601T=	ENSP00000392293.2:p.Phe201=
ENST00000529905.5:c.910T=	ENSP00000432053.1:p.Phe304=
ENST00000530076.5:c.253T=	ENSP00000434007.1:p.Phe85=
ENST00000530704.5:c.*533T=	ENSP00000431655.1:n.*533T=
NM_000310.3:c.910T= , LRG_690t1:c.910T=	NP_000301.1:p.Phe304=
NM_001142604.1:c.601T=	NP_001136076.1:p.Phe201=
XM_005271008.1:c.838T=	XP_005271065.1:p.Phe280=
NM_001363695.1:c.838T=	NP_001350624.1:p.Phe280=
NM_000310.4:c.910T= MANE Select	NP_000301.1:p.Phe304=
NM_001142604.2:c.601T=	NP_001136076.1:p.Phe201=
NM_001363695.2:c.838T=	NP_001350624.1:p.Phe280=