Canonical Allele Identifier: CA1164245527

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078581A= , CM000663.2:g.40078581A=	GRCh38
NC_000001.10:g.40544253A= , CM000663.1:g.40544253A=	GRCh37
NC_000001.9:g.40316840A=	NCBI36
NG_009192.1:g.23890T= , LRG_690:g.23890T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.702T=	ENSP00000394863.4:p.Ile234=
ENST00000439754.6:c.705T=	ENSP00000403207.2:p.Ile235=
ENST00000449045.7:c.396T=	ENSP00000392293.2:p.Ile132=
ENST00000527311.7:c.474T=	ENSP00000436695.3:p.Ile158=
ENST00000530076.6:c.48T=	ENSP00000434007.1:p.Ile16=
ENST00000530704.6:c.*328T=	ENSP00000431655.1:n.*328T=
ENST00000641083.1:c.683T=
ENST00000641236.1:n.942T=
ENST00000641319.1:c.705T=	ENSP00000493128.1:p.Ile235=
ENST00000641381.1:c.149-1668T=
ENST00000641471.1:c.792T=	ENSP00000493146.1:p.Ile264=
ENST00000641691.1:c.*557T=	ENSP00000492910.1:n.*557T=
ENST00000641924.1:c.*134T=	ENSP00000493063.1:n.*134T=
ENST00000642050.2:c.705T= MANE Select	ENSP00000493153.1:p.Ile235=
ENST00000372775.2:n.102T=
ENST00000372779.8:c.792T=	ENSP00000361865.4:p.Ile264=
ENST00000433473.7:c.705T=	ENSP00000394863.3:p.Ile235=
ENST00000439754.5:c.390T=	ENSP00000403207.1:p.Ile130=
ENST00000449045.6:c.396T=	ENSP00000392293.2:p.Ile132=
ENST00000527311.6:c.480T=	ENSP00000436695.2:p.Ile160=
ENST00000529905.5:c.705T=	ENSP00000432053.1:p.Ile235=
ENST00000530076.5:c.48T=	ENSP00000434007.1:p.Ile16=
ENST00000530704.5:c.*328T=	ENSP00000431655.1:n.*328T=
NM_000310.3:c.705T= , LRG_690t1:c.705T=	NP_000301.1:p.Ile235=
NM_001142604.1:c.396T=	NP_001136076.1:p.Ile132=
XM_005271008.1:c.705T=	XP_005271065.1:p.Ile235=
NM_001363695.1:c.705T=	NP_001350624.1:p.Ile235=
NM_000310.4:c.705T= MANE Select	NP_000301.1:p.Ile235=
NM_001142604.2:c.396T=	NP_001136076.1:p.Ile132=
NM_001363695.2:c.705T=	NP_001350624.1:p.Ile235=