Canonical Allele Identifier: CA316922
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 206641
dbSNP Id: rs149945902
gnomAD v2: 1-40558105-C-T
gnomAD v3: 1-40092433-C-T
gnomAD v4: 1-40092433-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092433C>T , CM000663.2:g.40092433C>T GRCh38
NC_000001.10:g.40558105C>T , CM000663.1:g.40558105C>T GRCh37
NC_000001.9:g.40330692C>T NCBI36
NG_009192.1:g.10038G>A , LRG_690:g.10038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*35G>A ENSP00000361865.5:n.*35G>A
ENST00000433473.8:c.196G>A ENSP00000394863.4:p.Val66Ile
ENST00000439754.6:c.199G>A ENSP00000403207.2:p.Val67Ile
ENST00000449045.7:c.125-2921G>A ENSP00000392293.2:n.125-2921G>A
ENST00000526547.2:c.479G>A
ENST00000527311.7:c.199G>A ENSP00000436695.3:p.Val67Ile
ENST00000530704.6:c.199G>A ENSP00000431655.1:p.Val67Ile
ENST00000641083.1:c.177G>A
ENST00000641236.1:n.211G>A
ENST00000641319.1:c.199G>A ENSP00000493128.1:p.Val67Ile
ENST00000641471.1:c.286G>A ENSP00000493146.1:p.Val96Ile
ENST00000641548.1:c.*51G>A ENSP00000492984.1:n.*51G>A
ENST00000641691.1:c.*51G>A ENSP00000492910.1:n.*51G>A
ENST00000641924.1:c.124+4682G>A ENSP00000493063.1:n.124+4682G>A
ENST00000642050.2:c.199G>A MANE Select ENSP00000493153.1:p.Val67Ile
ENST00000372779.8:c.286G>A ENSP00000361865.4:p.Val96Ile
ENST00000433473.7:c.199G>A ENSP00000394863.3:p.Val67Ile
ENST00000449045.6:c.125-2921G>A ENSP00000392293.2:n.125-2921G>A
ENST00000526547.1:c.49G>A ENSP00000436481.1:p.Val17Ile
ENST00000527311.6:c.125-376G>A ENSP00000436695.2:n.125-376G>A
ENST00000529905.5:c.199G>A ENSP00000432053.1:p.Val67Ile
ENST00000530704.5:c.199G>A ENSP00000431655.1:p.Val67Ile
NM_000310.3:c.199G>A , LRG_690t1:c.199G>A NP_000301.1:p.Val67Ile
NM_001142604.1:c.125-2921G>A NP_001136076.1:n.125-2921G>A
XM_005271008.1:c.199G>A XP_005271065.1:p.Val67Ile
NM_001363695.1:c.199G>A NP_001350624.1:p.Val67Ile
NM_000310.4:c.199G>A MANE Select NP_000301.1:p.Val67Ile
NM_001142604.2:c.125-2921G>A NP_001136076.1:n.125-2921G>A
NM_001363695.2:c.199G>A NP_001350624.1:p.Val67Ile