Canonical Allele Identifier: CA1164243536

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074065C= , CM000663.2:g.40074065C=	GRCh38
NC_000001.10:g.40539737C= , CM000663.1:g.40539737C=	GRCh37
NC_000001.9:g.40312324C=	NCBI36
NG_009192.1:g.28406G= , LRG_690:g.28406G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.914G=	ENSP00000394863.4:p.Gly305=
ENST00000439754.6:c.845G=	ENSP00000403207.2:p.Gly282=
ENST00000449045.7:c.608G=	ENSP00000392293.2:p.Gly203=
ENST00000530076.6:c.260G=	ENSP00000434007.1:p.Gly87=
ENST00000530704.6:c.*540G=	ENSP00000431655.1:n.*540G=
ENST00000641083.1:c.1007G=
ENST00000641236.1:n.1154G=
ENST00000641319.1:c.*127G=	ENSP00000493128.1:n.*127G=
ENST00000641381.1:c.339G=
ENST00000641471.1:c.1004G=	ENSP00000493146.1:p.Gly335=
ENST00000641691.1:c.*769G=	ENSP00000492910.1:n.*769G=
ENST00000641924.1:c.*346G=	ENSP00000493063.1:n.*346G=
ENST00000642050.2:c.917G= MANE Select	ENSP00000493153.1:p.Gly306=
ENST00000372775.2:n.314G=
ENST00000433473.7:c.917G=	ENSP00000394863.3:p.Gly306=
ENST00000439754.5:c.530G=	ENSP00000403207.1:p.Gly177=
ENST00000449045.6:c.608G=	ENSP00000392293.2:p.Gly203=
ENST00000529905.5:c.917G=	ENSP00000432053.1:p.Gly306=
ENST00000530076.5:c.260G=	ENSP00000434007.1:p.Gly87=
ENST00000530704.5:c.*540G=	ENSP00000431655.1:n.*540G=
NM_000310.3:c.917G= , LRG_690t1:c.917G=	NP_000301.1:p.Gly306=
NM_001142604.1:c.608G=	NP_001136076.1:p.Gly203=
XM_005271008.1:c.845G=	XP_005271065.1:p.Gly282=
NM_001363695.1:c.845G=	NP_001350624.1:p.Gly282=
NM_000310.4:c.917G= MANE Select	NP_000301.1:p.Gly306=
NM_001142604.2:c.608G=	NP_001136076.1:p.Gly203=
NM_001363695.2:c.845G=	NP_001350624.1:p.Gly282=