Canonical Allele Identifier: CA1164243516

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074021G= , CM000663.2:g.40074021G=	GRCh38
NC_000001.10:g.40539693G= , CM000663.1:g.40539693G=	GRCh37
NC_000001.9:g.40312280G=	NCBI36
NG_009192.1:g.28450C= , LRG_690:g.28450C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*40C=	ENSP00000394863.4:n.*40C=
ENST00000439754.6:c.*40C=	ENSP00000403207.2:n.*40C=
ENST00000449045.7:c.*40C=	ENSP00000392293.2:n.*40C=
ENST00000530076.6:c.*40C=	ENSP00000434007.1:n.*40C=
ENST00000530704.6:c.*584C=	ENSP00000431655.1:n.*584C=
ENST00000641083.1:c.1051C=
ENST00000641236.1:n.1198C=
ENST00000641319.1:c.*171C=	ENSP00000493128.1:n.*171C=
ENST00000641381.1:c.383C=
ENST00000641471.1:c.*40C=	ENSP00000493146.1:n.*40C=
ENST00000641691.1:c.*813C=	ENSP00000492910.1:n.*813C=
ENST00000642050.2:c.*40C= MANE Select	ENSP00000493153.1:n.*40C=
ENST00000372775.2:n.358C=
ENST00000433473.7:c.*40C=	ENSP00000394863.3:n.*40C=
ENST00000439754.5:c.574C=	ENSP00000403207.1:n.574C=
ENST00000449045.6:c.*40C=	ENSP00000392293.2:n.*40C=
ENST00000529905.5:c.*40C=	ENSP00000432053.1:n.*40C=
ENST00000530704.5:c.*584C=	ENSP00000431655.1:n.*584C=
NM_000310.3:c.*40C= , LRG_690t1:c.*40C=	NP_000301.1:n.*40C=
NM_001142604.1:c.*40C=	NP_001136076.1:n.*40C=
XM_005271008.1:c.*40C=	XP_005271065.1:n.*40C=
NM_001363695.1:c.*40C=	NP_001350624.1:n.*40C=
NM_000310.4:c.*40C= MANE Select	NP_000301.1:n.*40C=
NM_001142604.2:c.*40C=	NP_001136076.1:n.*40C=
NM_001363695.2:c.*40C=	NP_001350624.1:n.*40C=