Canonical Allele Identifier: CA263481
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56182
dbSNP Id: rs386833634

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092469dup , CM000663.2:g.40092469dup GRCh38
NC_000001.10:g.40558141dup , CM000663.1:g.40558141dup GRCh37
NC_000001.9:g.40330728dup NCBI36
NG_009192.1:g.10008dup , LRG_690:g.10008dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*5dup ENSP00000361865.5:n.*5dup
ENST00000433473.8:c.166dup ENSP00000394863.4:p.Met56AsnfsTer?
ENST00000439754.6:c.169dup ENSP00000403207.2:p.Met57AsnfsTer?
ENST00000449045.7:c.125-2951dup ENSP00000392293.2:n.125-2951dup
ENST00000526547.2:c.449dup
ENST00000527311.7:c.169dup ENSP00000436695.3:p.Met57AsnfsTer?
ENST00000530704.6:c.169dup ENSP00000431655.1:p.Met57AsnfsTer?
ENST00000641083.1:c.147dup
ENST00000641236.1:n.181dup
ENST00000641319.1:c.169dup ENSP00000493128.1:p.Met57AsnfsTer?
ENST00000641471.1:c.256dup ENSP00000493146.1:p.Met86AsnfsTer?
ENST00000641548.1:c.*21dup ENSP00000492984.1:n.*21dup
ENST00000641691.1:c.*21dup ENSP00000492910.1:n.*21dup
ENST00000641924.1:c.124+4652dup ENSP00000493063.1:n.124+4652dup
ENST00000642050.2:c.169dup MANE Select ENSP00000493153.1:p.Met57AsnfsTer?
ENST00000372779.8:c.256dup ENSP00000361865.4:p.Met86AsnfsTer?
ENST00000433473.7:c.169dup ENSP00000394863.3:p.Met57AsnfsTer?
ENST00000449045.6:c.125-2951dup ENSP00000392293.2:n.125-2951dup
ENST00000526547.1:c.19dup ENSP00000436481.1:p.Met7AsnfsTer?
ENST00000527311.6:c.125-406dup ENSP00000436695.2:n.125-406dup
ENST00000529905.5:c.169dup ENSP00000432053.1:p.Met57AsnfsTer?
ENST00000530704.5:c.169dup ENSP00000431655.1:p.Met57AsnfsTer?
NM_000310.3:c.169dup , LRG_690t1:c.169dup NP_000301.1:p.Met57AsnfsTer?
NM_001142604.1:c.125-2951dup NP_001136076.1:n.125-2951dup
XM_005271008.1:c.169dup XP_005271065.1:p.Met57AsnfsTer?
NM_001363695.1:c.169dup NP_001350624.1:p.Met57AsnfsTer?
NM_000310.4:c.169dup MANE Select NP_000301.1:p.Met57AsnfsTer?
NM_001142604.2:c.125-2951dup NP_001136076.1:n.125-2951dup
NM_001363695.2:c.169dup NP_001350624.1:p.Met57AsnfsTer?