Canonical Allele Identifier: CA1144228723

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40089408A= , CM000663.2:g.40089408A=	GRCh38
NC_000001.10:g.40555080A= , CM000663.1:g.40555080A=	GRCh37
NC_000001.9:g.40327667A=	NCBI36
NG_009192.1:g.13063T= , LRG_690:g.13063T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*372+2T=	ENSP00000361865.5:n.*372+2T=
ENST00000433473.8:c.533+2T=	ENSP00000394863.4:n.533+2T=
ENST00000439754.6:c.536+2T=	ENSP00000403207.2:n.536+2T=
ENST00000449045.7:c.227+2T=	ENSP00000392293.2:n.227+2T=
ENST00000527311.7:c.305+1921T=	ENSP00000436695.3:n.305+1921T=
ENST00000530704.6:c.*159+2T=	ENSP00000431655.1:n.*159+2T=
ENST00000641083.1:c.514+2T=
ENST00000641236.1:n.773+2T=
ENST00000641319.1:c.536+2T=	ENSP00000493128.1:n.536+2T=
ENST00000641381.1:c.148+2T=
ENST00000641471.1:c.623+2T=	ENSP00000493146.1:n.623+2T=
ENST00000641691.1:c.*388+2T=	ENSP00000492910.1:n.*388+2T=
ENST00000641924.1:c.124+7707T=	ENSP00000493063.1:n.124+7707T=
ENST00000642050.2:c.536+2T= MANE Select	ENSP00000493153.1:n.536+2T=
ENST00000372779.8:c.623+2T=	ENSP00000361865.4:n.623+2T=
ENST00000433473.7:c.536+2T=	ENSP00000394863.3:n.536+2T=
ENST00000439754.5:c.221+2T=	ENSP00000403207.1:n.221+2T=
ENST00000449045.6:c.227+2T=	ENSP00000392293.2:n.227+2T=
ENST00000527311.6:c.311+2T=	ENSP00000436695.2:n.311+2T=
ENST00000529905.5:c.536+2T=	ENSP00000432053.1:n.536+2T=
ENST00000530704.5:c.*159+2T=	ENSP00000431655.1:n.*159+2T=
NM_000310.3:c.536+2T= , LRG_690t1:c.536+2T=	NP_000301.1:n.536+2T=
NM_001142604.1:c.227+2T=	NP_001136076.1:n.227+2T=
XM_005271008.1:c.536+2T=	XP_005271065.1:n.536+2T=
NM_001363695.1:c.536+2T=	NP_001350624.1:n.536+2T=
NM_000310.4:c.536+2T= MANE Select	NP_000301.1:n.536+2T=
NM_001142604.2:c.227+2T=	NP_001136076.1:n.227+2T=
NM_001363695.2:c.536+2T=	NP_001350624.1:n.536+2T=