Canonical Allele Identifier: CA417322820

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40557831_40557832insTTTA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092160_40092161insTTAT , CM000663.2:g.40092160_40092161insTTAT	GRCh38
NC_000001.10:g.40557832_40557833insTTAT , CM000663.1:g.40557832_40557833insTTAT	GRCh37
NC_000001.9:g.40330419_40330420insTTAT	NCBI36
NG_009192.1:g.10311_10312insTAAA , LRG_690:g.10311_10312insTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*83_*84insTAAA	ENSP00000361865.5:n.*83_*84insTAAA
ENST00000433473.8:c.244_245insTAAA	ENSP00000394863.4:p.Ser82IlefsTer20
ENST00000439754.6:c.247_248insTAAA	ENSP00000403207.2:p.Ser83IlefsTer20
ENST00000449045.7:c.125-2648_125-2647insTAAA	ENSP00000392293.2:n.125-2648_125-2647insTAAA
ENST00000526547.2:c.527_528insTAAA
ENST00000527311.7:c.234+238_234+239insTAAA	ENSP00000436695.3:n.234+238_234+239insTAAA
ENST00000530704.6:c.247_248insTAAA	ENSP00000431655.1:p.Ser83IlefsTer20
ENST00000641083.1:c.225_226insTAAA
ENST00000641236.1:n.484_485insTAAA
ENST00000641319.1:c.247_248insTAAA	ENSP00000493128.1:p.Ser83IlefsTer20
ENST00000641471.1:c.334_335insTAAA	ENSP00000493146.1:p.Ser112IlefsTer20
ENST00000641548.1:c.*99_*100insTAAA	ENSP00000492984.1:n.*99_*100insTAAA
ENST00000641691.1:c.*99_*100insTAAA	ENSP00000492910.1:n.*99_*100insTAAA
ENST00000641924.1:c.124+4955_124+4956insTAAA	ENSP00000493063.1:n.124+4955_124+4956insTAAA
ENST00000642050.2:c.247_248insTAAA MANE Select	ENSP00000493153.1:p.Ser83IlefsTer20
ENST00000372779.8:c.334_335insTAAA	ENSP00000361865.4:p.Ser112IlefsTer20
ENST00000433473.7:c.247_248insTAAA	ENSP00000394863.3:p.Ser83IlefsTer20
ENST00000449045.6:c.125-2648_125-2647insTAAA	ENSP00000392293.2:n.125-2648_125-2647insTAAA
ENST00000526547.1:c.97_98insTAAA	ENSP00000436481.1:p.Ser33IlefsTer20
ENST00000527311.6:c.125-103_125-102insTAAA	ENSP00000436695.2:n.125-103_125-102insTAAA
ENST00000529905.5:c.247_248insTAAA	ENSP00000432053.1:p.Ser83IlefsTer20
ENST00000530704.5:c.247_248insTAAA	ENSP00000431655.1:p.Ser83IlefsTer20
NM_000310.3:c.247_248insTAAA , LRG_690t1:c.247_248insTAAA	NP_000301.1:p.Ser83IlefsTer20
NM_001142604.1:c.125-2648_125-2647insTAAA	NP_001136076.1:n.125-2648_125-2647insTAAA
XM_005271008.1:c.247_248insTAAA	XP_005271065.1:p.Ser83IlefsTer20
NM_001363695.1:c.247_248insTAAA	NP_001350624.1:p.Ser83IlefsTer20
NM_000310.4:c.247_248insTAAA MANE Select	NP_000301.1:p.Ser83IlefsTer20
NM_001142604.2:c.125-2648_125-2647insTAAA	NP_001136076.1:n.125-2648_125-2647insTAAA
NM_001363695.2:c.247_248insTAAA	NP_001350624.1:p.Ser83IlefsTer20