Canonical Allele Identifier: CA339847666

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546098T>A (hg19) ; chr1:g.40080426T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080426T>A , CM000663.2:g.40080426T>A	GRCh38
NC_000001.10:g.40546098T>A , CM000663.1:g.40546098T>A	GRCh37
NC_000001.9:g.40318685T>A	NCBI36
NG_009192.1:g.22045A>T , LRG_690:g.22045A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.595A>T	ENSP00000394863.4:p.Ile199Phe
ENST00000439754.6:c.598A>T	ENSP00000403207.2:p.Ile200Phe
ENST00000449045.7:c.289A>T	ENSP00000392293.2:p.Ile97Phe
ENST00000527311.7:c.367A>T	ENSP00000436695.3:p.Ile123Phe
ENST00000530076.6:c.-60A>T	ENSP00000434007.1:n.-60A>T
ENST00000530704.6:c.*221A>T	ENSP00000431655.1:n.*221A>T
ENST00000641083.1:c.576A>T
ENST00000641236.1:n.835A>T
ENST00000641319.1:c.598A>T	ENSP00000493128.1:p.Ile200Phe
ENST00000641381.1:c.149-3513A>T
ENST00000641471.1:c.685A>T	ENSP00000493146.1:p.Ile229Phe
ENST00000641691.1:c.*450A>T	ENSP00000492910.1:n.*450A>T
ENST00000641924.1:c.*27A>T	ENSP00000493063.1:n.*27A>T
ENST00000642050.2:c.598A>T MANE Select	ENSP00000493153.1:p.Ile200Phe
ENST00000372779.8:c.685A>T	ENSP00000361865.4:p.Ile229Phe
ENST00000433473.7:c.598A>T	ENSP00000394863.3:p.Ile200Phe
ENST00000439754.5:c.283A>T	ENSP00000403207.1:p.Ile95Phe
ENST00000449045.6:c.289A>T	ENSP00000392293.2:p.Ile97Phe
ENST00000527311.6:c.373A>T	ENSP00000436695.2:p.Ile125Phe
ENST00000529905.5:c.598A>T	ENSP00000432053.1:p.Ile200Phe
ENST00000530076.5:c.-60A>T	ENSP00000434007.1:n.-60A>T
ENST00000530704.5:c.*221A>T	ENSP00000431655.1:n.*221A>T
NM_000310.3:c.598A>T , LRG_690t1:c.598A>T	NP_000301.1:p.Ile200Phe
NM_001142604.1:c.289A>T	NP_001136076.1:p.Ile97Phe
XM_005271008.1:c.598A>T	XP_005271065.1:p.Ile200Phe
NM_001363695.1:c.598A>T	NP_001350624.1:p.Ile200Phe
NM_000310.4:c.598A>T MANE Select	NP_000301.1:p.Ile200Phe
NM_001142604.2:c.289A>T	NP_001136076.1:p.Ile97Phe
NM_001363695.2:c.598A>T	NP_001350624.1:p.Ile200Phe