Canonical Allele Identifier: CA417322875

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40558097A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092425A>T , CM000663.2:g.40092425A>T	GRCh38
NC_000001.10:g.40558097A>T , CM000663.1:g.40558097A>T	GRCh37
NC_000001.9:g.40330684A>T	NCBI36
NG_009192.1:g.10046T>A , LRG_690:g.10046T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*43T>A	ENSP00000361865.5:n.*43T>A
ENST00000433473.8:c.204T>A	ENSP00000394863.4:p.Ser68=
ENST00000439754.6:c.207T>A	ENSP00000403207.2:p.Ser69=
ENST00000449045.7:c.125-2913T>A	ENSP00000392293.2:n.125-2913T>A
ENST00000526547.2:c.487T>A
ENST00000527311.7:c.207T>A	ENSP00000436695.3:p.Ser69=
ENST00000530704.6:c.207T>A	ENSP00000431655.1:p.Ser69=
ENST00000641083.1:c.185T>A
ENST00000641236.1:n.219T>A
ENST00000641319.1:c.207T>A	ENSP00000493128.1:p.Ser69=
ENST00000641471.1:c.294T>A	ENSP00000493146.1:p.Ser98=
ENST00000641548.1:c.*59T>A	ENSP00000492984.1:n.*59T>A
ENST00000641691.1:c.*59T>A	ENSP00000492910.1:n.*59T>A
ENST00000641924.1:c.124+4690T>A	ENSP00000493063.1:n.124+4690T>A
ENST00000642050.2:c.207T>A MANE Select	ENSP00000493153.1:p.Ser69=
ENST00000372779.8:c.294T>A	ENSP00000361865.4:p.Ser98=
ENST00000433473.7:c.207T>A	ENSP00000394863.3:p.Ser69=
ENST00000449045.6:c.125-2913T>A	ENSP00000392293.2:n.125-2913T>A
ENST00000526547.1:c.57T>A	ENSP00000436481.1:p.Ser19=
ENST00000527311.6:c.125-368T>A	ENSP00000436695.2:n.125-368T>A
ENST00000529905.5:c.207T>A	ENSP00000432053.1:p.Ser69=
ENST00000530704.5:c.207T>A	ENSP00000431655.1:p.Ser69=
NM_000310.3:c.207T>A , LRG_690t1:c.207T>A	NP_000301.1:p.Ser69=
NM_001142604.1:c.125-2913T>A	NP_001136076.1:n.125-2913T>A
XM_005271008.1:c.207T>A	XP_005271065.1:p.Ser69=
NM_001363695.1:c.207T>A	NP_001350624.1:p.Ser69=
NM_000310.4:c.207T>A MANE Select	NP_000301.1:p.Ser69=
NM_001142604.2:c.125-2913T>A	NP_001136076.1:n.125-2913T>A
NM_001363695.2:c.207T>A	NP_001350624.1:p.Ser69=