Canonical Allele Identifier: CA1164243517
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074023T= , CM000663.2:g.40074023T= GRCh38
NC_000001.10:g.40539695T= , CM000663.1:g.40539695T= GRCh37
NC_000001.9:g.40312282T= NCBI36
NG_009192.1:g.28448A= , LRG_690:g.28448A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.*38A= ENSP00000394863.4:n.*38A=
ENST00000439754.6:c.*38A= ENSP00000403207.2:n.*38A=
ENST00000449045.7:c.*38A= ENSP00000392293.2:n.*38A=
ENST00000530076.6:c.*38A= ENSP00000434007.1:n.*38A=
ENST00000530704.6:c.*582A= ENSP00000431655.1:n.*582A=
ENST00000641083.1:c.1049A=
ENST00000641236.1:n.1196A=
ENST00000641319.1:c.*169A= ENSP00000493128.1:n.*169A=
ENST00000641381.1:c.381A=
ENST00000641471.1:c.*38A= ENSP00000493146.1:n.*38A=
ENST00000641691.1:c.*811A= ENSP00000492910.1:n.*811A=
ENST00000642050.2:c.*38A= MANE Select ENSP00000493153.1:n.*38A=
ENST00000372775.2:n.356A=
ENST00000433473.7:c.*38A= ENSP00000394863.3:n.*38A=
ENST00000439754.5:c.572A= ENSP00000403207.1:n.572A=
ENST00000449045.6:c.*38A= ENSP00000392293.2:n.*38A=
ENST00000529905.5:c.*38A= ENSP00000432053.1:n.*38A=
ENST00000530704.5:c.*582A= ENSP00000431655.1:n.*582A=
NM_000310.3:c.*38A= , LRG_690t1:c.*38A= NP_000301.1:n.*38A=
NM_001142604.1:c.*38A= NP_001136076.1:n.*38A=
XM_005271008.1:c.*38A= XP_005271065.1:n.*38A=
NM_001363695.1:c.*38A= NP_001350624.1:n.*38A=
NM_000310.4:c.*38A= MANE Select NP_000301.1:n.*38A=
NM_001142604.2:c.*38A= NP_001136076.1:n.*38A=
NM_001363695.2:c.*38A= NP_001350624.1:n.*38A=