Canonical Allele Identifier: CA339845626

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539809A>T (hg19) ; chr1:g.40074137A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074137A>T , CM000663.2:g.40074137A>T	GRCh38
NC_000001.10:g.40539809A>T , CM000663.1:g.40539809A>T	GRCh37
NC_000001.9:g.40312396A>T	NCBI36
NG_009192.1:g.28334T>A , LRG_690:g.28334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.842T>A	ENSP00000394863.4:p.Phe281Tyr
ENST00000439754.6:c.773T>A	ENSP00000403207.2:p.Phe258Tyr
ENST00000449045.7:c.536T>A	ENSP00000392293.2:p.Phe179Tyr
ENST00000527311.7:c.614T>A	ENSP00000436695.3:p.Phe205Tyr
ENST00000530076.6:c.188T>A	ENSP00000434007.1:p.Phe63Tyr
ENST00000530704.6:c.*468T>A	ENSP00000431655.1:n.*468T>A
ENST00000641083.1:c.935T>A
ENST00000641236.1:n.1082T>A
ENST00000641319.1:c.*55T>A	ENSP00000493128.1:n.*55T>A
ENST00000641381.1:c.267T>A
ENST00000641471.1:c.932T>A	ENSP00000493146.1:p.Phe311Tyr
ENST00000641691.1:c.*697T>A	ENSP00000492910.1:n.*697T>A
ENST00000641924.1:c.*274T>A	ENSP00000493063.1:n.*274T>A
ENST00000642050.2:c.845T>A MANE Select	ENSP00000493153.1:p.Phe282Tyr
ENST00000372775.2:n.242T>A
ENST00000433473.7:c.845T>A	ENSP00000394863.3:p.Phe282Tyr
ENST00000439754.5:c.458T>A	ENSP00000403207.1:p.Phe153Tyr
ENST00000449045.6:c.536T>A	ENSP00000392293.2:p.Phe179Tyr
ENST00000529905.5:c.845T>A	ENSP00000432053.1:p.Phe282Tyr
ENST00000530076.5:c.188T>A	ENSP00000434007.1:p.Phe63Tyr
ENST00000530704.5:c.*468T>A	ENSP00000431655.1:n.*468T>A
NM_000310.3:c.845T>A , LRG_690t1:c.845T>A	NP_000301.1:p.Phe282Tyr
NM_001142604.1:c.536T>A	NP_001136076.1:p.Phe179Tyr
XM_005271008.1:c.773T>A	XP_005271065.1:p.Phe258Tyr
NM_001363695.1:c.773T>A	NP_001350624.1:p.Phe258Tyr
NM_000310.4:c.845T>A MANE Select	NP_000301.1:p.Phe282Tyr
NM_001142604.2:c.536T>A	NP_001136076.1:p.Phe179Tyr
NM_001363695.2:c.773T>A	NP_001350624.1:p.Phe258Tyr