Canonical Allele Identifier: CA1141312381

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074055C= , CM000663.2:g.40074055C=	GRCh38
NC_000001.10:g.40539727C= , CM000663.1:g.40539727C=	GRCh37
NC_000001.9:g.40312314C=	NCBI36
NG_009192.1:g.28416G= , LRG_690:g.28416G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*6G=	ENSP00000394863.4:n.*6G=
ENST00000439754.6:c.*6G=	ENSP00000403207.2:n.*6G=
ENST00000449045.7:c.*6G=	ENSP00000392293.2:n.*6G=
ENST00000530076.6:c.*6G=	ENSP00000434007.1:n.*6G=
ENST00000530704.6:c.*550G=	ENSP00000431655.1:n.*550G=
ENST00000641083.1:c.1017G=
ENST00000641236.1:n.1164G=
ENST00000641319.1:c.*137G=	ENSP00000493128.1:n.*137G=
ENST00000641381.1:c.349G=
ENST00000641471.1:c.*6G=	ENSP00000493146.1:n.*6G=
ENST00000641691.1:c.*779G=	ENSP00000492910.1:n.*779G=
ENST00000641924.1:c.*356G=	ENSP00000493063.1:n.*356G=
ENST00000642050.2:c.*6G= MANE Select	ENSP00000493153.1:n.*6G=
ENST00000372775.2:n.324G=
ENST00000433473.7:c.*6G=	ENSP00000394863.3:n.*6G=
ENST00000439754.5:c.540G=	ENSP00000403207.1:n.540G=
ENST00000449045.6:c.*6G=	ENSP00000392293.2:n.*6G=
ENST00000529905.5:c.*6G=	ENSP00000432053.1:n.*6G=
ENST00000530076.5:c.*6G=	ENSP00000434007.1:n.*6G=
ENST00000530704.5:c.*550G=	ENSP00000431655.1:n.*550G=
NM_000310.3:c.*6G= , LRG_690t1:c.*6G=	NP_000301.1:n.*6G=
NM_001142604.1:c.*6G=	NP_001136076.1:n.*6G=
XM_005271008.1:c.*6G=	XP_005271065.1:n.*6G=
NM_001363695.1:c.*6G=	NP_001350624.1:n.*6G=
NM_000310.4:c.*6G= MANE Select	NP_000301.1:n.*6G=
NM_001142604.2:c.*6G=	NP_001136076.1:n.*6G=
NM_001363695.2:c.*6G=	NP_001350624.1:n.*6G=