Canonical Allele Identifier: CA339845435

Gene: PPT1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074096A>T , CM000663.2:g.40074096A>T	GRCh38
NC_000001.10:g.40539768A>T , CM000663.1:g.40539768A>T	GRCh37
NC_000001.9:g.40312355A>T	NCBI36
NG_009192.1:g.28375T>A , LRG_690:g.28375T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.883T>A	ENSP00000394863.4:p.Trp295Arg
ENST00000439754.6:c.814T>A	ENSP00000403207.2:p.Trp272Arg
ENST00000449045.7:c.577T>A	ENSP00000392293.2:p.Trp193Arg
ENST00000530076.6:c.229T>A	ENSP00000434007.1:p.Trp77Arg
ENST00000530704.6:c.*509T>A	ENSP00000431655.1:n.*509T>A
ENST00000641083.1:c.976T>A
ENST00000641236.1:n.1123T>A
ENST00000641319.1:c.*96T>A	ENSP00000493128.1:n.*96T>A
ENST00000641381.1:c.308T>A
ENST00000641471.1:c.973T>A	ENSP00000493146.1:p.Trp325Arg
ENST00000641691.1:c.*738T>A	ENSP00000492910.1:n.*738T>A
ENST00000641924.1:c.*315T>A	ENSP00000493063.1:n.*315T>A
ENST00000642050.2:c.886T>A MANE Select	ENSP00000493153.1:p.Trp296Arg
ENST00000372775.2:n.283T>A
ENST00000433473.7:c.886T>A	ENSP00000394863.3:p.Trp296Arg
ENST00000439754.5:c.499T>A	ENSP00000403207.1:p.Trp167Arg
ENST00000449045.6:c.577T>A	ENSP00000392293.2:p.Trp193Arg
ENST00000529905.5:c.886T>A	ENSP00000432053.1:p.Trp296Arg
ENST00000530076.5:c.229T>A	ENSP00000434007.1:p.Trp77Arg
ENST00000530704.5:c.*509T>A	ENSP00000431655.1:n.*509T>A
NM_000310.3:c.886T>A , LRG_690t1:c.886T>A	NP_000301.1:p.Trp296Arg
NM_001142604.1:c.577T>A	NP_001136076.1:p.Trp193Arg
XM_005271008.1:c.814T>A	XP_005271065.1:p.Trp272Arg
NM_001363695.1:c.814T>A	NP_001350624.1:p.Trp272Arg
NM_000310.4:c.886T>A MANE Select	NP_000301.1:p.Trp296Arg
NM_001142604.2:c.577T>A	NP_001136076.1:p.Trp193Arg
NM_001363695.2:c.814T>A	NP_001350624.1:p.Trp272Arg