Canonical Allele Identifier: CA1149115667

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074120C= , CM000663.2:g.40074120C=	GRCh38
NC_000001.10:g.40539792C= , CM000663.1:g.40539792C=	GRCh37
NC_000001.9:g.40312379C=	NCBI36
NG_009192.1:g.28351G= , LRG_690:g.28351G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.859G=	ENSP00000394863.4:p.Asp287=
ENST00000439754.6:c.790G=	ENSP00000403207.2:p.Asp264=
ENST00000449045.7:c.553G=	ENSP00000392293.2:p.Asp185=
ENST00000530076.6:c.205G=	ENSP00000434007.1:p.Asp69=
ENST00000530704.6:c.*485G=	ENSP00000431655.1:n.*485G=
ENST00000641083.1:c.952G=
ENST00000641236.1:n.1099G=
ENST00000641319.1:c.*72G=	ENSP00000493128.1:n.*72G=
ENST00000641381.1:c.284G=
ENST00000641471.1:c.949G=	ENSP00000493146.1:p.Asp317=
ENST00000641691.1:c.*714G=	ENSP00000492910.1:n.*714G=
ENST00000641924.1:c.*291G=	ENSP00000493063.1:n.*291G=
ENST00000642050.2:c.862G= MANE Select	ENSP00000493153.1:p.Asp288=
ENST00000372775.2:n.259G=
ENST00000433473.7:c.862G=	ENSP00000394863.3:p.Asp288=
ENST00000439754.5:c.475G=	ENSP00000403207.1:p.Asp159=
ENST00000449045.6:c.553G=	ENSP00000392293.2:p.Asp185=
ENST00000529905.5:c.862G=	ENSP00000432053.1:p.Asp288=
ENST00000530076.5:c.205G=	ENSP00000434007.1:p.Asp69=
ENST00000530704.5:c.*485G=	ENSP00000431655.1:n.*485G=
NM_000310.3:c.862G= , LRG_690t1:c.862G=	NP_000301.1:p.Asp288=
NM_001142604.1:c.553G=	NP_001136076.1:p.Asp185=
XM_005271008.1:c.790G=	XP_005271065.1:p.Asp264=
NM_001363695.1:c.790G=	NP_001350624.1:p.Asp264=
NM_000310.4:c.862G= MANE Select	NP_000301.1:p.Asp288=
NM_001142604.2:c.553G=	NP_001136076.1:p.Asp185=
NM_001363695.2:c.790G=	NP_001350624.1:p.Asp264=