Canonical Allele Identifier: CA1144228726

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40089456G= , CM000663.2:g.40089456G=	GRCh38
NC_000001.10:g.40555128G= , CM000663.1:g.40555128G=	GRCh37
NC_000001.9:g.40327715G=	NCBI36
NG_009192.1:g.13015C= , LRG_690:g.13015C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*326C=	ENSP00000361865.5:n.*326C=
ENST00000433473.8:c.487C=	ENSP00000394863.4:p.Arg163=
ENST00000439754.6:c.490C=	ENSP00000403207.2:p.Arg164=
ENST00000449045.7:c.181C=	ENSP00000392293.2:p.Arg61=
ENST00000527311.7:c.305+1873C=	ENSP00000436695.3:n.305+1873C=
ENST00000530704.6:c.*113C=	ENSP00000431655.1:n.*113C=
ENST00000641083.1:c.468C=
ENST00000641236.1:n.727C=
ENST00000641319.1:c.490C=	ENSP00000493128.1:p.Arg164=
ENST00000641381.1:c.102C=
ENST00000641471.1:c.577C=	ENSP00000493146.1:p.Arg193=
ENST00000641691.1:c.*342C=	ENSP00000492910.1:n.*342C=
ENST00000641924.1:c.124+7659C=	ENSP00000493063.1:n.124+7659C=
ENST00000642050.2:c.490C= MANE Select	ENSP00000493153.1:p.Arg164=
ENST00000372779.8:c.577C=	ENSP00000361865.4:p.Arg193=
ENST00000433473.7:c.490C=	ENSP00000394863.3:p.Arg164=
ENST00000439754.5:c.175C=	ENSP00000403207.1:p.Arg59=
ENST00000449045.6:c.181C=	ENSP00000392293.2:p.Arg61=
ENST00000527311.6:c.265C=	ENSP00000436695.2:p.Arg89=
ENST00000529905.5:c.490C=	ENSP00000432053.1:p.Arg164=
ENST00000530704.5:c.*113C=	ENSP00000431655.1:n.*113C=
NM_000310.3:c.490C= , LRG_690t1:c.490C=	NP_000301.1:p.Arg164=
NM_001142604.1:c.181C=	NP_001136076.1:p.Arg61=
XM_005271008.1:c.490C=	XP_005271065.1:p.Arg164=
NM_001363695.1:c.490C=	NP_001350624.1:p.Arg164=
NM_000310.4:c.490C= MANE Select	NP_000301.1:p.Arg164=
NM_001142604.2:c.181C=	NP_001136076.1:p.Arg61=
NM_001363695.2:c.490C=	NP_001350624.1:p.Arg164=