Canonical Allele Identifier: CA339847880

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080473T>A , CM000663.2:g.40080473T>A	GRCh38
NC_000001.10:g.40546145T>A , CM000663.1:g.40546145T>A	GRCh37
NC_000001.9:g.40318732T>A	NCBI36
NG_009192.1:g.21998A>T , LRG_690:g.21998A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.551A>T MANE Select	NP_000301.1:p.Glu184Val
ENST00000642050.2:c.551A>T MANE Select	ENSP00000493153.1:p.Glu184Val
NM_000310.3:c.551A>T , LRG_690t1:c.551A>T	NP_000301.1:p.Glu184Val
NM_001142604.1:c.242A>T	NP_001136076.1:p.Glu81Val
NM_001142604.2:c.242A>T	NP_001136076.1:p.Glu81Val
NM_001363695.1:c.551A>T	NP_001350624.1:p.Glu184Val
NM_001363695.2:c.551A>T	NP_001350624.1:p.Glu184Val
ENST00000372779.8:c.638A>T	ENSP00000361865.4:p.Glu213Val
ENST00000372779.9:c.*387A>T	ENSP00000361865.5:n.*387A>T
ENST00000433473.7:c.551A>T	ENSP00000394863.3:p.Glu184Val
ENST00000433473.8:c.548A>T	ENSP00000394863.4:p.Glu183Val
ENST00000439754.5:c.236A>T	ENSP00000403207.1:p.Glu79Val
ENST00000439754.6:c.551A>T	ENSP00000403207.2:p.Glu184Val
ENST00000449045.6:c.242A>T	ENSP00000392293.2:p.Glu81Val
ENST00000449045.7:c.242A>T	ENSP00000392293.2:p.Glu81Val
ENST00000527311.6:c.326A>T	ENSP00000436695.2:p.Glu109Val
ENST00000527311.7:c.320A>T	ENSP00000436695.3:p.Glu107Val
ENST00000529905.5:c.551A>T	ENSP00000432053.1:p.Glu184Val
ENST00000530076.5:c.-107A>T	ENSP00000434007.1:n.-107A>T
ENST00000530076.6:c.-107A>T	ENSP00000434007.1:n.-107A>T
ENST00000530704.5:c.*174A>T	ENSP00000431655.1:n.*174A>T
ENST00000530704.6:c.*174A>T	ENSP00000431655.1:n.*174A>T
ENST00000641083.1:c.529A>T
ENST00000641236.1:n.788A>T
ENST00000641319.1:c.551A>T	ENSP00000493128.1:p.Glu184Val
ENST00000641381.1:c.149-3560A>T
ENST00000641471.1:c.638A>T	ENSP00000493146.1:p.Glu213Val
ENST00000641691.1:c.*403A>T	ENSP00000492910.1:n.*403A>T
ENST00000641924.1:c.139A>T	ENSP00000493063.1:p.Asn47Tyr
XM_005271008.1:c.551A>T	XP_005271065.1:p.Glu184Val