Canonical Allele Identifier: CA263472
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56178
ClinVar RCV Id: RCV000049589
dbSNP Id: rs386833630
gnomAD v4: 1-40092509-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092509T>C , CM000663.2:g.40092509T>C GRCh38
NC_000001.10:g.40558181T>C , CM000663.1:g.40558181T>C GRCh37
NC_000001.9:g.40330768T>C NCBI36
NG_009192.1:g.9962A>G , LRG_690:g.9962A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.129-2A>G ENSP00000361865.5:n.129-2A>G
ENST00000433473.8:c.125-5A>G ENSP00000394863.4:n.125-5A>G
ENST00000439754.6:c.125-2A>G ENSP00000403207.2:n.125-2A>G
ENST00000449045.7:c.125-2997A>G ENSP00000392293.2:n.125-2997A>G
ENST00000526547.2:c.405-2A>G
ENST00000527311.7:c.125-2A>G ENSP00000436695.3:n.125-2A>G
ENST00000530704.6:c.125-2A>G ENSP00000431655.1:n.125-2A>G
ENST00000641083.1:c.103-2A>G
ENST00000641236.1:n.137-2A>G
ENST00000641319.1:c.125-2A>G ENSP00000493128.1:n.125-2A>G
ENST00000641471.1:c.212-2A>G ENSP00000493146.1:n.212-2A>G
ENST00000641548.1:c.125-9A>G ENSP00000492984.1:n.125-9A>G
ENST00000641691.1:c.125-9A>G ENSP00000492910.1:n.125-9A>G
ENST00000641924.1:c.124+4606A>G ENSP00000493063.1:n.124+4606A>G
ENST00000642050.2:c.125-2A>G MANE Select ENSP00000493153.1:n.125-2A>G
ENST00000372779.8:c.212-2A>G ENSP00000361865.4:n.212-2A>G
ENST00000433473.7:c.125-2A>G ENSP00000394863.3:n.125-2A>G
ENST00000449045.6:c.125-2997A>G ENSP00000392293.2:n.125-2997A>G
ENST00000526547.1:c.-26-2A>G ENSP00000436481.1:n.-26-2A>G
ENST00000527311.6:c.125-452A>G ENSP00000436695.2:n.125-452A>G
ENST00000529905.5:c.125-2A>G ENSP00000432053.1:n.125-2A>G
ENST00000530704.5:c.125-2A>G ENSP00000431655.1:n.125-2A>G
NM_000310.3:c.125-2A>G , LRG_690t1:c.125-2A>G NP_000301.1:n.125-2A>G
NM_001142604.1:c.125-2997A>G NP_001136076.1:n.125-2997A>G
XM_005271008.1:c.125-2A>G XP_005271065.1:n.125-2A>G
NM_001363695.1:c.125-2A>G NP_001350624.1:n.125-2A>G
NM_000310.4:c.125-2A>G MANE Select NP_000301.1:n.125-2A>G
NM_001142604.2:c.125-2997A>G NP_001136076.1:n.125-2997A>G
NM_001363695.2:c.125-2A>G NP_001350624.1:n.125-2A>G