Canonical Allele Identifier: CA339845570

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539797T>A (hg19) ; chr1:g.40074125T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074125T>A , CM000663.2:g.40074125T>A	GRCh38
NC_000001.10:g.40539797T>A , CM000663.1:g.40539797T>A	GRCh37
NC_000001.9:g.40312384T>A	NCBI36
NG_009192.1:g.28346A>T , LRG_690:g.28346A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.854A>T	ENSP00000394863.4:p.Glu285Val
ENST00000439754.6:c.785A>T	ENSP00000403207.2:p.Glu262Val
ENST00000449045.7:c.548A>T	ENSP00000392293.2:p.Glu183Val
ENST00000530076.6:c.200A>T	ENSP00000434007.1:p.Glu67Val
ENST00000530704.6:c.*480A>T	ENSP00000431655.1:n.*480A>T
ENST00000641083.1:c.947A>T
ENST00000641236.1:n.1094A>T
ENST00000641319.1:c.*67A>T	ENSP00000493128.1:n.*67A>T
ENST00000641381.1:c.279A>T
ENST00000641471.1:c.944A>T	ENSP00000493146.1:p.Glu315Val
ENST00000641691.1:c.*709A>T	ENSP00000492910.1:n.*709A>T
ENST00000641924.1:c.*286A>T	ENSP00000493063.1:n.*286A>T
ENST00000642050.2:c.857A>T MANE Select	ENSP00000493153.1:p.Glu286Val
ENST00000372775.2:n.254A>T
ENST00000433473.7:c.857A>T	ENSP00000394863.3:p.Glu286Val
ENST00000439754.5:c.470A>T	ENSP00000403207.1:p.Glu157Val
ENST00000449045.6:c.548A>T	ENSP00000392293.2:p.Glu183Val
ENST00000529905.5:c.857A>T	ENSP00000432053.1:p.Glu286Val
ENST00000530076.5:c.200A>T	ENSP00000434007.1:p.Glu67Val
ENST00000530704.5:c.*480A>T	ENSP00000431655.1:n.*480A>T
NM_000310.3:c.857A>T , LRG_690t1:c.857A>T	NP_000301.1:p.Glu286Val
NM_001142604.1:c.548A>T	NP_001136076.1:p.Glu183Val
XM_005271008.1:c.785A>T	XP_005271065.1:p.Glu262Val
NM_001363695.1:c.785A>T	NP_001350624.1:p.Glu262Val
NM_000310.4:c.857A>T MANE Select	NP_000301.1:p.Glu286Val
NM_001142604.2:c.548A>T	NP_001136076.1:p.Glu183Val
NM_001363695.2:c.785A>T	NP_001350624.1:p.Glu262Val