Canonical Allele Identifier: CA339845526

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539787A>T (hg19) ; chr1:g.40074115A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074115A>T , CM000663.2:g.40074115A>T	GRCh38
NC_000001.10:g.40539787A>T , CM000663.1:g.40539787A>T	GRCh37
NC_000001.9:g.40312374A>T	NCBI36
NG_009192.1:g.28356T>A , LRG_690:g.28356T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.864T>A	ENSP00000394863.4:p.His288Gln
ENST00000439754.6:c.795T>A	ENSP00000403207.2:p.His265Gln
ENST00000449045.7:c.558T>A	ENSP00000392293.2:p.His186Gln
ENST00000530076.6:c.210T>A	ENSP00000434007.1:p.His70Gln
ENST00000530704.6:c.*490T>A	ENSP00000431655.1:n.*490T>A
ENST00000641083.1:c.957T>A
ENST00000641236.1:n.1104T>A
ENST00000641319.1:c.*77T>A	ENSP00000493128.1:n.*77T>A
ENST00000641381.1:c.289T>A
ENST00000641471.1:c.954T>A	ENSP00000493146.1:p.His318Gln
ENST00000641691.1:c.*719T>A	ENSP00000492910.1:n.*719T>A
ENST00000641924.1:c.*296T>A	ENSP00000493063.1:n.*296T>A
ENST00000642050.2:c.867T>A MANE Select	ENSP00000493153.1:p.His289Gln
ENST00000372775.2:n.264T>A
ENST00000433473.7:c.867T>A	ENSP00000394863.3:p.His289Gln
ENST00000439754.5:c.480T>A	ENSP00000403207.1:p.His160Gln
ENST00000449045.6:c.558T>A	ENSP00000392293.2:p.His186Gln
ENST00000529905.5:c.867T>A	ENSP00000432053.1:p.His289Gln
ENST00000530076.5:c.210T>A	ENSP00000434007.1:p.His70Gln
ENST00000530704.5:c.*490T>A	ENSP00000431655.1:n.*490T>A
NM_000310.3:c.867T>A , LRG_690t1:c.867T>A	NP_000301.1:p.His289Gln
NM_001142604.1:c.558T>A	NP_001136076.1:p.His186Gln
XM_005271008.1:c.795T>A	XP_005271065.1:p.His265Gln
NM_001363695.1:c.795T>A	NP_001350624.1:p.His265Gln
NM_000310.4:c.867T>A MANE Select	NP_000301.1:p.His289Gln
NM_001142604.2:c.558T>A	NP_001136076.1:p.His186Gln
NM_001363695.2:c.795T>A	NP_001350624.1:p.His265Gln