Canonical Allele Identifier: CA789738
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 533953
dbSNP Id: rs534592472
gnomAD v2: 1-40557713-G-A
gnomAD v3: 1-40092041-G-A
gnomAD v4: 1-40092041-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092041G>A , CM000663.2:g.40092041G>A GRCh38
NC_000001.10:g.40557713G>A , CM000663.1:g.40557713G>A GRCh37
NC_000001.9:g.40330300G>A NCBI36
NG_009192.1:g.10430C>T , LRG_690:g.10430C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*198+4C>T ENSP00000361865.5:n.*198+4C>T
ENST00000433473.8:c.359+4C>T ENSP00000394863.4:n.359+4C>T
ENST00000439754.6:c.362+4C>T ENSP00000403207.2:n.362+4C>T
ENST00000449045.7:c.125-2529C>T ENSP00000392293.2:n.125-2529C>T
ENST00000526547.2:c.642+4C>T
ENST00000527311.7:c.234+357C>T ENSP00000436695.3:n.234+357C>T
ENST00000530704.6:c.362+4C>T ENSP00000431655.1:n.362+4C>T
ENST00000641083.1:c.340+4C>T
ENST00000641236.1:n.599+4C>T
ENST00000641319.1:c.362+4C>T ENSP00000493128.1:n.362+4C>T
ENST00000641471.1:c.449+4C>T ENSP00000493146.1:n.449+4C>T
ENST00000641548.1:c.*214+4C>T ENSP00000492984.1:n.*214+4C>T
ENST00000641691.1:c.*214+4C>T ENSP00000492910.1:n.*214+4C>T
ENST00000641924.1:c.124+5074C>T ENSP00000493063.1:n.124+5074C>T
ENST00000642050.2:c.362+4C>T MANE Select ENSP00000493153.1:n.362+4C>T
ENST00000372779.8:c.449+4C>T ENSP00000361865.4:n.449+4C>T
ENST00000433473.7:c.362+4C>T ENSP00000394863.3:n.362+4C>T
ENST00000439754.5:c.47+4C>T ENSP00000403207.1:n.47+4C>T
ENST00000449045.6:c.125-2529C>T ENSP00000392293.2:n.125-2529C>T
ENST00000526547.1:c.212+4C>T ENSP00000436481.1:n.212+4C>T
ENST00000527311.6:c.137+4C>T ENSP00000436695.2:n.137+4C>T
ENST00000529905.5:c.362+4C>T ENSP00000432053.1:n.362+4C>T
ENST00000530704.5:c.362+4C>T ENSP00000431655.1:n.362+4C>T
NM_000310.3:c.362+4C>T , LRG_690t1:c.362+4C>T NP_000301.1:n.362+4C>T
NM_001142604.1:c.125-2529C>T NP_001136076.1:n.125-2529C>T
XM_005271008.1:c.362+4C>T XP_005271065.1:n.362+4C>T
NM_001363695.1:c.362+4C>T NP_001350624.1:n.362+4C>T
NM_000310.4:c.362+4C>T MANE Select NP_000301.1:n.362+4C>T
NM_001142604.2:c.125-2529C>T NP_001136076.1:n.125-2529C>T
NM_001363695.2:c.362+4C>T NP_001350624.1:n.362+4C>T