Canonical Allele Identifier: CA1164252718
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092435T= , CM000663.2:g.40092435T= GRCh38
NC_000001.10:g.40558107T= , CM000663.1:g.40558107T= GRCh37
NC_000001.9:g.40330694T= NCBI36
NG_009192.1:g.10036A= , LRG_690:g.10036A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*33A= ENSP00000361865.5:n.*33A=
ENST00000433473.8:c.194A= ENSP00000394863.4:p.Tyr65=
ENST00000439754.6:c.197A= ENSP00000403207.2:p.Tyr66=
ENST00000449045.7:c.125-2923A= ENSP00000392293.2:n.125-2923A=
ENST00000526547.2:c.477A=
ENST00000527311.7:c.197A= ENSP00000436695.3:p.Tyr66=
ENST00000530704.6:c.197A= ENSP00000431655.1:p.Tyr66=
ENST00000641083.1:c.175A=
ENST00000641236.1:n.209A=
ENST00000641319.1:c.197A= ENSP00000493128.1:p.Tyr66=
ENST00000641471.1:c.284A= ENSP00000493146.1:p.Tyr95=
ENST00000641548.1:c.*49A= ENSP00000492984.1:n.*49A=
ENST00000641691.1:c.*49A= ENSP00000492910.1:n.*49A=
ENST00000641924.1:c.124+4680A= ENSP00000493063.1:n.124+4680A=
ENST00000642050.2:c.197A= MANE Select ENSP00000493153.1:p.Tyr66=
ENST00000372779.8:c.284A= ENSP00000361865.4:p.Tyr95=
ENST00000433473.7:c.197A= ENSP00000394863.3:p.Tyr66=
ENST00000449045.6:c.125-2923A= ENSP00000392293.2:n.125-2923A=
ENST00000526547.1:c.47A= ENSP00000436481.1:p.Tyr16=
ENST00000527311.6:c.125-378A= ENSP00000436695.2:n.125-378A=
ENST00000529905.5:c.197A= ENSP00000432053.1:p.Tyr66=
ENST00000530704.5:c.197A= ENSP00000431655.1:p.Tyr66=
NM_000310.3:c.197A= , LRG_690t1:c.197A= NP_000301.1:p.Tyr66=
NM_001142604.1:c.125-2923A= NP_001136076.1:n.125-2923A=
XM_005271008.1:c.197A= XP_005271065.1:p.Tyr66=
NM_001363695.1:c.197A= NP_001350624.1:p.Tyr66=
NM_000310.4:c.197A= MANE Select NP_000301.1:p.Tyr66=
NM_001142604.2:c.125-2923A= NP_001136076.1:n.125-2923A=
NM_001363695.2:c.197A= NP_001350624.1:p.Tyr66=