Canonical Allele Identifier: CA339845383

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539761T>A (hg19) ; chr1:g.40074089T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074089T>A , CM000663.2:g.40074089T>A	GRCh38
NC_000001.10:g.40539761T>A , CM000663.1:g.40539761T>A	GRCh37
NC_000001.9:g.40312348T>A	NCBI36
NG_009192.1:g.28382A>T , LRG_690:g.28382A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.890A>T	ENSP00000394863.4:p.Tyr297Phe
ENST00000439754.6:c.821A>T	ENSP00000403207.2:p.Tyr274Phe
ENST00000449045.7:c.584A>T	ENSP00000392293.2:p.Tyr195Phe
ENST00000530076.6:c.236A>T	ENSP00000434007.1:p.Tyr79Phe
ENST00000530704.6:c.*516A>T	ENSP00000431655.1:n.*516A>T
ENST00000641083.1:c.983A>T
ENST00000641236.1:n.1130A>T
ENST00000641319.1:c.*103A>T	ENSP00000493128.1:n.*103A>T
ENST00000641381.1:c.315A>T
ENST00000641471.1:c.980A>T	ENSP00000493146.1:p.Tyr327Phe
ENST00000641691.1:c.*745A>T	ENSP00000492910.1:n.*745A>T
ENST00000641924.1:c.*322A>T	ENSP00000493063.1:n.*322A>T
ENST00000642050.2:c.893A>T MANE Select	ENSP00000493153.1:p.Tyr298Phe
ENST00000372775.2:n.290A>T
ENST00000433473.7:c.893A>T	ENSP00000394863.3:p.Tyr298Phe
ENST00000439754.5:c.506A>T	ENSP00000403207.1:p.Tyr169Phe
ENST00000449045.6:c.584A>T	ENSP00000392293.2:p.Tyr195Phe
ENST00000529905.5:c.893A>T	ENSP00000432053.1:p.Tyr298Phe
ENST00000530076.5:c.236A>T	ENSP00000434007.1:p.Tyr79Phe
ENST00000530704.5:c.*516A>T	ENSP00000431655.1:n.*516A>T
NM_000310.3:c.893A>T , LRG_690t1:c.893A>T	NP_000301.1:p.Tyr298Phe
NM_001142604.1:c.584A>T	NP_001136076.1:p.Tyr195Phe
XM_005271008.1:c.821A>T	XP_005271065.1:p.Tyr274Phe
NM_001363695.1:c.821A>T	NP_001350624.1:p.Tyr274Phe
NM_000310.4:c.893A>T MANE Select	NP_000301.1:p.Tyr298Phe
NM_001142604.2:c.584A>T	NP_001136076.1:p.Tyr195Phe
NM_001363695.2:c.821A>T	NP_001350624.1:p.Tyr274Phe