Canonical Allele Identifier: CA263473
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56179
dbSNP Id: rs386833631
gnomAD v4: 1-40092507-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092507C>T , CM000663.2:g.40092507C>T GRCh38
NC_000001.10:g.40558179C>T , CM000663.1:g.40558179C>T GRCh37
NC_000001.9:g.40330766C>T NCBI36
NG_009192.1:g.9964G>A , LRG_690:g.9964G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.129G>A ENSP00000361865.5:p.Glu43=
ENST00000433473.8:c.125-3G>A ENSP00000394863.4:n.125-3G>A
ENST00000439754.6:c.125G>A ENSP00000403207.2:p.Gly42Glu
ENST00000449045.7:c.125-2995G>A ENSP00000392293.2:n.125-2995G>A
ENST00000526547.2:c.405G>A
ENST00000527311.7:c.125G>A ENSP00000436695.3:p.Gly42Glu
ENST00000530704.6:c.125G>A ENSP00000431655.1:p.Gly42Glu
ENST00000641083.1:c.103G>A
ENST00000641236.1:n.137G>A
ENST00000641319.1:c.125G>A ENSP00000493128.1:p.Gly42Glu
ENST00000641471.1:c.212G>A ENSP00000493146.1:p.Gly71Glu
ENST00000641548.1:c.125-7G>A ENSP00000492984.1:n.125-7G>A
ENST00000641691.1:c.125-7G>A ENSP00000492910.1:n.125-7G>A
ENST00000641924.1:c.124+4608G>A ENSP00000493063.1:n.124+4608G>A
ENST00000642050.2:c.125G>A MANE Select ENSP00000493153.1:p.Gly42Glu
ENST00000372779.8:c.212G>A ENSP00000361865.4:p.Gly71Glu
ENST00000433473.7:c.125G>A ENSP00000394863.3:p.Gly42Glu
ENST00000449045.6:c.125-2995G>A ENSP00000392293.2:n.125-2995G>A
ENST00000526547.1:c.-26G>A ENSP00000436481.1:n.-26G>A
ENST00000527311.6:c.125-450G>A ENSP00000436695.2:n.125-450G>A
ENST00000529905.5:c.125G>A ENSP00000432053.1:p.Gly42Glu
ENST00000530704.5:c.125G>A ENSP00000431655.1:p.Gly42Glu
NM_000310.3:c.125G>A , LRG_690t1:c.125G>A NP_000301.1:p.Gly42Glu
NM_001142604.1:c.125-2995G>A NP_001136076.1:n.125-2995G>A
XM_005271008.1:c.125G>A XP_005271065.1:p.Gly42Glu
NM_001363695.1:c.125G>A NP_001350624.1:p.Gly42Glu
NM_000310.4:c.125G>A MANE Select NP_000301.1:p.Gly42Glu
NM_001142604.2:c.125-2995G>A NP_001136076.1:n.125-2995G>A
NM_001363695.2:c.125G>A NP_001350624.1:p.Gly42Glu