Canonical Allele Identifier: CA1164251265

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091271A= , CM000663.2:g.40091271A=	GRCh38
NC_000001.10:g.40556943A= , CM000663.1:g.40556943A=	GRCh37
NC_000001.9:g.40329530A=	NCBI36
NG_009192.1:g.11200T= , LRG_690:g.11200T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+58T=	ENSP00000361865.5:n.*269+58T=
ENST00000433473.8:c.430+58T=	ENSP00000394863.4:n.430+58T=
ENST00000439754.6:c.433+58T=	ENSP00000403207.2:n.433+58T=
ENST00000449045.7:c.125-1759T=	ENSP00000392293.2:n.125-1759T=
ENST00000526547.2:c.713+58T=
ENST00000527311.7:c.305+58T=	ENSP00000436695.3:n.305+58T=
ENST00000530704.6:c.433+58T=	ENSP00000431655.1:n.433+58T=
ENST00000641083.1:c.411+58T=
ENST00000641236.1:n.670+58T=
ENST00000641319.1:c.433+58T=	ENSP00000493128.1:n.433+58T=
ENST00000641381.1:c.45+58T=
ENST00000641471.1:c.520+58T=	ENSP00000493146.1:n.520+58T=
ENST00000641548.1:c.*285+58T=	ENSP00000492984.1:n.*285+58T=
ENST00000641691.1:c.*285+58T=	ENSP00000492910.1:n.*285+58T=
ENST00000641924.1:c.124+5844T=	ENSP00000493063.1:n.124+5844T=
ENST00000642050.2:c.433+58T= MANE Select	ENSP00000493153.1:n.433+58T=
ENST00000372779.8:c.520+58T=	ENSP00000361865.4:n.520+58T=
ENST00000433473.7:c.433+58T=	ENSP00000394863.3:n.433+58T=
ENST00000439754.5:c.118+58T=	ENSP00000403207.1:n.118+58T=
ENST00000449045.6:c.125-1759T=	ENSP00000392293.2:n.125-1759T=
ENST00000526547.1:c.283+58T=	ENSP00000436481.1:n.283+58T=
ENST00000527311.6:c.208+58T=	ENSP00000436695.2:n.208+58T=
ENST00000529905.5:c.433+58T=	ENSP00000432053.1:n.433+58T=
ENST00000530704.5:c.433+58T=	ENSP00000431655.1:n.433+58T=
NM_000310.3:c.433+58T= , LRG_690t1:c.433+58T=	NP_000301.1:n.433+58T=
NM_001142604.1:c.125-1759T=	NP_001136076.1:n.125-1759T=
XM_005271008.1:c.433+58T=	XP_005271065.1:n.433+58T=
NM_001363695.1:c.433+58T=	NP_001350624.1:n.433+58T=
NM_000310.4:c.433+58T= MANE Select	NP_000301.1:n.433+58T=
NM_001142604.2:c.125-1759T=	NP_001136076.1:n.125-1759T=
NM_001363695.2:c.433+58T=	NP_001350624.1:n.433+58T=