Canonical Allele Identifier: CA789782
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs546190311
gnomAD v2: 1-40558080-G-T
gnomAD v3: 1-40092408-G-T
gnomAD v4: 1-40092408-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092408G>T , CM000663.2:g.40092408G>T GRCh38
NC_000001.10:g.40558080G>T , CM000663.1:g.40558080G>T GRCh37
NC_000001.9:g.40330667G>T NCBI36
NG_009192.1:g.10063C>A , LRG_690:g.10063C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*60C>A ENSP00000361865.5:n.*60C>A
ENST00000433473.8:c.221C>A ENSP00000394863.4:p.Thr74Asn
ENST00000439754.6:c.224C>A ENSP00000403207.2:p.Thr75Asn
ENST00000449045.7:c.125-2896C>A ENSP00000392293.2:n.125-2896C>A
ENST00000526547.2:c.504C>A
ENST00000527311.7:c.224C>A ENSP00000436695.3:p.Thr75Asn
ENST00000530704.6:c.224C>A ENSP00000431655.1:p.Thr75Asn
ENST00000641083.1:c.202C>A
ENST00000641236.1:n.236C>A
ENST00000641319.1:c.224C>A ENSP00000493128.1:p.Thr75Asn
ENST00000641471.1:c.311C>A ENSP00000493146.1:p.Thr104Asn
ENST00000641548.1:c.*76C>A ENSP00000492984.1:n.*76C>A
ENST00000641691.1:c.*76C>A ENSP00000492910.1:n.*76C>A
ENST00000641924.1:c.124+4707C>A ENSP00000493063.1:n.124+4707C>A
ENST00000642050.2:c.224C>A MANE Select ENSP00000493153.1:p.Thr75Asn
ENST00000372779.8:c.311C>A ENSP00000361865.4:p.Thr104Asn
ENST00000433473.7:c.224C>A ENSP00000394863.3:p.Thr75Asn
ENST00000449045.6:c.125-2896C>A ENSP00000392293.2:n.125-2896C>A
ENST00000526547.1:c.74C>A ENSP00000436481.1:p.Thr25Asn
ENST00000527311.6:c.125-351C>A ENSP00000436695.2:n.125-351C>A
ENST00000529905.5:c.224C>A ENSP00000432053.1:p.Thr75Asn
ENST00000530704.5:c.224C>A ENSP00000431655.1:p.Thr75Asn
NM_000310.3:c.224C>A , LRG_690t1:c.224C>A NP_000301.1:p.Thr75Asn
NM_001142604.1:c.125-2896C>A NP_001136076.1:n.125-2896C>A
XM_005271008.1:c.224C>A XP_005271065.1:p.Thr75Asn
NM_001363695.1:c.224C>A NP_001350624.1:p.Thr75Asn
NM_000310.4:c.224C>A MANE Select NP_000301.1:p.Thr75Asn
NM_001142604.2:c.125-2896C>A NP_001136076.1:n.125-2896C>A
NM_001363695.2:c.224C>A NP_001350624.1:p.Thr75Asn