Canonical Allele Identifier: CA789777
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410224
ClinVar RCV Id: RCV000461907
dbSNP Id: rs200777536
gnomAD v2: 1-40558063-G-A
gnomAD v3: 1-40092391-G-A
gnomAD v4: 1-40092391-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092391G>A , CM000663.2:g.40092391G>A GRCh38
NC_000001.10:g.40558063G>A , CM000663.1:g.40558063G>A GRCh37
NC_000001.9:g.40330650G>A NCBI36
NG_009192.1:g.10080C>T , LRG_690:g.10080C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*70+7C>T ENSP00000361865.5:n.*70+7C>T
ENST00000433473.8:c.231+7C>T ENSP00000394863.4:n.231+7C>T
ENST00000439754.6:c.234+7C>T ENSP00000403207.2:n.234+7C>T
ENST00000449045.7:c.125-2879C>T ENSP00000392293.2:n.125-2879C>T
ENST00000526547.2:c.514+7C>T
ENST00000527311.7:c.234+7C>T ENSP00000436695.3:n.234+7C>T
ENST00000530704.6:c.234+7C>T ENSP00000431655.1:n.234+7C>T
ENST00000641083.1:c.212+7C>T
ENST00000641236.1:n.253C>T
ENST00000641319.1:c.234+7C>T ENSP00000493128.1:n.234+7C>T
ENST00000641471.1:c.321+7C>T ENSP00000493146.1:n.321+7C>T
ENST00000641548.1:c.*86+7C>T ENSP00000492984.1:n.*86+7C>T
ENST00000641691.1:c.*86+7C>T ENSP00000492910.1:n.*86+7C>T
ENST00000641924.1:c.124+4724C>T ENSP00000493063.1:n.124+4724C>T
ENST00000642050.2:c.234+7C>T MANE Select ENSP00000493153.1:n.234+7C>T
ENST00000372779.8:c.321+7C>T ENSP00000361865.4:n.321+7C>T
ENST00000433473.7:c.234+7C>T ENSP00000394863.3:n.234+7C>T
ENST00000449045.6:c.125-2879C>T ENSP00000392293.2:n.125-2879C>T
ENST00000526547.1:c.84+7C>T ENSP00000436481.1:n.84+7C>T
ENST00000527311.6:c.125-334C>T ENSP00000436695.2:n.125-334C>T
ENST00000529905.5:c.234+7C>T ENSP00000432053.1:n.234+7C>T
ENST00000530704.5:c.234+7C>T ENSP00000431655.1:n.234+7C>T
NM_000310.3:c.234+7C>T , LRG_690t1:c.234+7C>T NP_000301.1:n.234+7C>T
NM_001142604.1:c.125-2879C>T NP_001136076.1:n.125-2879C>T
XM_005271008.1:c.234+7C>T XP_005271065.1:n.234+7C>T
NM_001363695.1:c.234+7C>T NP_001350624.1:n.234+7C>T
NM_000310.4:c.234+7C>T MANE Select NP_000301.1:n.234+7C>T
NM_001142604.2:c.125-2879C>T NP_001136076.1:n.125-2879C>T
NM_001363695.2:c.234+7C>T NP_001350624.1:n.234+7C>T