Canonical Allele Identifier: CA339846676
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2175983
ClinVar RCV Id: RCV002582154

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078590A>C , CM000663.2:g.40078590A>C GRCh38
NC_000001.10:g.40544262A>C , CM000663.1:g.40544262A>C GRCh37
NC_000001.9:g.40316849A>C NCBI36
NG_009192.1:g.23881T>G , LRG_690:g.23881T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.693T>G ENSP00000394863.4:p.Asn231Lys
ENST00000439754.6:c.696T>G ENSP00000403207.2:p.Asn232Lys
ENST00000449045.7:c.387T>G ENSP00000392293.2:p.Asn129Lys
ENST00000527311.7:c.465T>G ENSP00000436695.3:p.Asn155Lys
ENST00000530076.6:c.39T>G ENSP00000434007.1:p.Asn13Lys
ENST00000530704.6:c.*319T>G ENSP00000431655.1:n.*319T>G
ENST00000641083.1:c.674T>G
ENST00000641236.1:n.933T>G
ENST00000641319.1:c.696T>G ENSP00000493128.1:p.Asn232Lys
ENST00000641381.1:c.149-1677T>G
ENST00000641471.1:c.783T>G ENSP00000493146.1:p.Asn261Lys
ENST00000641691.1:c.*548T>G ENSP00000492910.1:n.*548T>G
ENST00000641924.1:c.*125T>G ENSP00000493063.1:n.*125T>G
ENST00000642050.2:c.696T>G MANE Select ENSP00000493153.1:p.Asn232Lys
ENST00000372775.2:n.93T>G
ENST00000372779.8:c.783T>G ENSP00000361865.4:p.Asn261Lys
ENST00000433473.7:c.696T>G ENSP00000394863.3:p.Asn232Lys
ENST00000439754.5:c.381T>G ENSP00000403207.1:p.Asn127Lys
ENST00000449045.6:c.387T>G ENSP00000392293.2:p.Asn129Lys
ENST00000527311.6:c.471T>G ENSP00000436695.2:p.Asn157Lys
ENST00000529905.5:c.696T>G ENSP00000432053.1:p.Asn232Lys
ENST00000530076.5:c.39T>G ENSP00000434007.1:p.Asn13Lys
ENST00000530704.5:c.*319T>G ENSP00000431655.1:n.*319T>G
NM_000310.3:c.696T>G , LRG_690t1:c.696T>G NP_000301.1:p.Asn232Lys
NM_001142604.1:c.387T>G NP_001136076.1:p.Asn129Lys
XM_005271008.1:c.696T>G XP_005271065.1:p.Asn232Lys
NM_001363695.1:c.696T>G NP_001350624.1:p.Asn232Lys
NM_000310.4:c.696T>G MANE Select NP_000301.1:p.Asn232Lys
NM_001142604.2:c.387T>G NP_001136076.1:p.Asn129Lys
NM_001363695.2:c.696T>G NP_001350624.1:p.Asn232Lys