Canonical Allele Identifier: CA1164243629
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074275T= , CM000663.2:g.40074275T= GRCh38
NC_000001.10:g.40539947T= , CM000663.1:g.40539947T= GRCh37
NC_000001.9:g.40312534T= NCBI36
NG_009192.1:g.28196A= , LRG_690:g.28196A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.796-92A= ENSP00000394863.4:n.796-92A=
ENST00000439754.6:c.727-92A= ENSP00000403207.2:n.727-92A=
ENST00000449045.7:c.490-92A= ENSP00000392293.2:n.490-92A=
ENST00000527311.7:c.568-92A= ENSP00000436695.3:n.568-92A=
ENST00000530076.6:c.142-92A= ENSP00000434007.1:n.142-92A=
ENST00000530704.6:c.*422-92A= ENSP00000431655.1:n.*422-92A=
ENST00000641083.1:c.889-92A=
ENST00000641236.1:n.1036-92A=
ENST00000641319.1:c.*9-92A= ENSP00000493128.1:n.*9-92A=
ENST00000641381.1:c.221-92A=
ENST00000641471.1:c.886-92A= ENSP00000493146.1:n.886-92A=
ENST00000641691.1:c.*651-92A= ENSP00000492910.1:n.*651-92A=
ENST00000641924.1:c.*228-92A= ENSP00000493063.1:n.*228-92A=
ENST00000642050.2:c.799-92A= MANE Select ENSP00000493153.1:n.799-92A=
ENST00000372775.2:n.196-92A=
ENST00000433473.7:c.799-92A= ENSP00000394863.3:n.799-92A=
ENST00000439754.5:c.412-92A= ENSP00000403207.1:n.412-92A=
ENST00000449045.6:c.490-92A= ENSP00000392293.2:n.490-92A=
ENST00000527311.6:c.574-92A= ENSP00000436695.2:n.574-92A=
ENST00000529905.5:c.799-92A= ENSP00000432053.1:n.799-92A=
ENST00000530076.5:c.142-92A= ENSP00000434007.1:n.142-92A=
ENST00000530704.5:c.*422-92A= ENSP00000431655.1:n.*422-92A=
NM_000310.3:c.799-92A= , LRG_690t1:c.799-92A= NP_000301.1:n.799-92A=
NM_001142604.1:c.490-92A= NP_001136076.1:n.490-92A=
XM_005271008.1:c.727-92A= XP_005271065.1:n.727-92A=
NM_001363695.1:c.727-92A= NP_001350624.1:n.727-92A=
NM_000310.4:c.799-92A= MANE Select NP_000301.1:n.799-92A=
NM_001142604.2:c.490-92A= NP_001136076.1:n.490-92A=
NM_001363695.2:c.727-92A= NP_001350624.1:n.727-92A=