Canonical Allele Identifier: CA339849640

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40558090T>A (hg19) ; chr1:g.40092418T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092418T>A , CM000663.2:g.40092418T>A	GRCh38
NC_000001.10:g.40558090T>A , CM000663.1:g.40558090T>A	GRCh37
NC_000001.9:g.40330677T>A	NCBI36
NG_009192.1:g.10053A>T , LRG_690:g.10053A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*50A>T	ENSP00000361865.5:n.*50A>T
ENST00000433473.8:c.211A>T	ENSP00000394863.4:p.Ile71Phe
ENST00000439754.6:c.214A>T	ENSP00000403207.2:p.Ile72Phe
ENST00000449045.7:c.125-2906A>T	ENSP00000392293.2:n.125-2906A>T
ENST00000526547.2:c.494A>T
ENST00000527311.7:c.214A>T	ENSP00000436695.3:p.Ile72Phe
ENST00000530704.6:c.214A>T	ENSP00000431655.1:p.Ile72Phe
ENST00000641083.1:c.192A>T
ENST00000641236.1:n.226A>T
ENST00000641319.1:c.214A>T	ENSP00000493128.1:p.Ile72Phe
ENST00000641471.1:c.301A>T	ENSP00000493146.1:p.Ile101Phe
ENST00000641548.1:c.*66A>T	ENSP00000492984.1:n.*66A>T
ENST00000641691.1:c.*66A>T	ENSP00000492910.1:n.*66A>T
ENST00000641924.1:c.124+4697A>T	ENSP00000493063.1:n.124+4697A>T
ENST00000642050.2:c.214A>T MANE Select	ENSP00000493153.1:p.Ile72Phe
ENST00000372779.8:c.301A>T	ENSP00000361865.4:p.Ile101Phe
ENST00000433473.7:c.214A>T	ENSP00000394863.3:p.Ile72Phe
ENST00000449045.6:c.125-2906A>T	ENSP00000392293.2:n.125-2906A>T
ENST00000526547.1:c.64A>T	ENSP00000436481.1:p.Ile22Phe
ENST00000527311.6:c.125-361A>T	ENSP00000436695.2:n.125-361A>T
ENST00000529905.5:c.214A>T	ENSP00000432053.1:p.Ile72Phe
ENST00000530704.5:c.214A>T	ENSP00000431655.1:p.Ile72Phe
NM_000310.3:c.214A>T , LRG_690t1:c.214A>T	NP_000301.1:p.Ile72Phe
NM_001142604.1:c.125-2906A>T	NP_001136076.1:n.125-2906A>T
XM_005271008.1:c.214A>T	XP_005271065.1:p.Ile72Phe
NM_001363695.1:c.214A>T	NP_001350624.1:p.Ile72Phe
NM_000310.4:c.214A>T MANE Select	NP_000301.1:p.Ile72Phe
NM_001142604.2:c.125-2906A>T	NP_001136076.1:n.125-2906A>T
NM_001363695.2:c.214A>T	NP_001350624.1:p.Ile72Phe