Canonical Allele Identifier: CA339848863

Gene: PPT1

Linked Data

• gnomAD v4: 1-40091362-T-A
• MyVariant Identifiers: chr1:g.40557034T>A (hg19) ; chr1:g.40091362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091362T>A , CM000663.2:g.40091362T>A	GRCh38
NC_000001.10:g.40557034T>A , CM000663.1:g.40557034T>A	GRCh37
NC_000001.9:g.40329621T>A	NCBI36
NG_009192.1:g.11109A>T , LRG_690:g.11109A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*236A>T	ENSP00000361865.5:n.*236A>T
ENST00000433473.8:c.397A>T	ENSP00000394863.4:p.Ile133Phe
ENST00000439754.6:c.400A>T	ENSP00000403207.2:p.Ile134Phe
ENST00000449045.7:c.125-1850A>T	ENSP00000392293.2:n.125-1850A>T
ENST00000526547.2:c.680A>T
ENST00000527311.7:c.272A>T	ENSP00000436695.3:p.Asp91Val
ENST00000530704.6:c.400A>T	ENSP00000431655.1:p.Ile134Phe
ENST00000641083.1:c.378A>T
ENST00000641236.1:n.637A>T
ENST00000641319.1:c.400A>T	ENSP00000493128.1:p.Ile134Phe
ENST00000641381.1:c.12A>T
ENST00000641471.1:c.487A>T	ENSP00000493146.1:p.Ile163Phe
ENST00000641548.1:c.*252A>T	ENSP00000492984.1:n.*252A>T
ENST00000641691.1:c.*252A>T	ENSP00000492910.1:n.*252A>T
ENST00000641924.1:c.124+5753A>T	ENSP00000493063.1:n.124+5753A>T
ENST00000642050.2:c.400A>T MANE Select	ENSP00000493153.1:p.Ile134Phe
ENST00000372779.8:c.487A>T	ENSP00000361865.4:p.Ile163Phe
ENST00000433473.7:c.400A>T	ENSP00000394863.3:p.Ile134Phe
ENST00000439754.5:c.85A>T	ENSP00000403207.1:p.Ile29Phe
ENST00000449045.6:c.125-1850A>T	ENSP00000392293.2:n.125-1850A>T
ENST00000526547.1:c.250A>T	ENSP00000436481.1:p.Ile84Phe
ENST00000527311.6:c.175A>T	ENSP00000436695.2:p.Ile59Phe
ENST00000529905.5:c.400A>T	ENSP00000432053.1:p.Ile134Phe
ENST00000530704.5:c.400A>T	ENSP00000431655.1:p.Ile134Phe
NM_000310.3:c.400A>T , LRG_690t1:c.400A>T	NP_000301.1:p.Ile134Phe
NM_001142604.1:c.125-1850A>T	NP_001136076.1:n.125-1850A>T
XM_005271008.1:c.400A>T	XP_005271065.1:p.Ile134Phe
NM_001363695.1:c.400A>T	NP_001350624.1:p.Ile134Phe
NM_000310.4:c.400A>T MANE Select	NP_000301.1:p.Ile134Phe
NM_001142604.2:c.125-1850A>T	NP_001136076.1:n.125-1850A>T
NM_001363695.2:c.400A>T	NP_001350624.1:p.Ile134Phe