Canonical Allele Identifier: CA1164251350

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091336T= , CM000663.2:g.40091336T=	GRCh38
NC_000001.10:g.40557008T= , CM000663.1:g.40557008T=	GRCh37
NC_000001.9:g.40329595T=	NCBI36
NG_009192.1:g.11135A= , LRG_690:g.11135A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*262A=	ENSP00000361865.5:n.*262A=
ENST00000433473.8:c.423A=	ENSP00000394863.4:p.Gln141=
ENST00000439754.6:c.426A=	ENSP00000403207.2:p.Gln142=
ENST00000449045.7:c.125-1824A=	ENSP00000392293.2:n.125-1824A=
ENST00000526547.2:c.706A=
ENST00000527311.7:c.298A=	ENSP00000436695.3:p.Thr100=
ENST00000530704.6:c.426A=	ENSP00000431655.1:p.Gln142=
ENST00000641083.1:c.404A=
ENST00000641236.1:n.663A=
ENST00000641319.1:c.426A=	ENSP00000493128.1:p.Gln142=
ENST00000641381.1:c.38A=
ENST00000641471.1:c.513A=	ENSP00000493146.1:p.Gln171=
ENST00000641548.1:c.*278A=	ENSP00000492984.1:n.*278A=
ENST00000641691.1:c.*278A=	ENSP00000492910.1:n.*278A=
ENST00000641924.1:c.124+5779A=	ENSP00000493063.1:n.124+5779A=
ENST00000642050.2:c.426A= MANE Select	ENSP00000493153.1:p.Gln142=
ENST00000372779.8:c.513A=	ENSP00000361865.4:p.Gln171=
ENST00000433473.7:c.426A=	ENSP00000394863.3:p.Gln142=
ENST00000439754.5:c.111A=	ENSP00000403207.1:p.Gln37=
ENST00000449045.6:c.125-1824A=	ENSP00000392293.2:n.125-1824A=
ENST00000526547.1:c.276A=	ENSP00000436481.1:p.Gln92=
ENST00000527311.6:c.201A=	ENSP00000436695.2:p.Gln67=
ENST00000529905.5:c.426A=	ENSP00000432053.1:p.Gln142=
ENST00000530704.5:c.426A=	ENSP00000431655.1:p.Gln142=
NM_000310.3:c.426A= , LRG_690t1:c.426A=	NP_000301.1:p.Gln142=
NM_001142604.1:c.125-1824A=	NP_001136076.1:n.125-1824A=
XM_005271008.1:c.426A=	XP_005271065.1:p.Gln142=
NM_001363695.1:c.426A=	NP_001350624.1:p.Gln142=
NM_000310.4:c.426A= MANE Select	NP_000301.1:p.Gln142=
NM_001142604.2:c.125-1824A=	NP_001136076.1:n.125-1824A=
NM_001363695.2:c.426A=	NP_001350624.1:p.Gln142=