Canonical Allele Identifier: CA339847655

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546095A>T (hg19) ; chr1:g.40080423A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080423A>T , CM000663.2:g.40080423A>T	GRCh38
NC_000001.10:g.40546095A>T , CM000663.1:g.40546095A>T	GRCh37
NC_000001.9:g.40318682A>T	NCBI36
NG_009192.1:g.22048T>A , LRG_690:g.22048T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.598T>A	ENSP00000394863.4:p.Phe200Ile
ENST00000439754.6:c.601T>A	ENSP00000403207.2:p.Phe201Ile
ENST00000449045.7:c.292T>A	ENSP00000392293.2:p.Phe98Ile
ENST00000527311.7:c.370T>A	ENSP00000436695.3:p.Phe124Ile
ENST00000530076.6:c.-57T>A	ENSP00000434007.1:n.-57T>A
ENST00000530704.6:c.*224T>A	ENSP00000431655.1:n.*224T>A
ENST00000641083.1:c.579T>A
ENST00000641236.1:n.838T>A
ENST00000641319.1:c.601T>A	ENSP00000493128.1:p.Phe201Ile
ENST00000641381.1:c.149-3510T>A
ENST00000641471.1:c.688T>A	ENSP00000493146.1:p.Phe230Ile
ENST00000641691.1:c.*453T>A	ENSP00000492910.1:n.*453T>A
ENST00000641924.1:c.*30T>A	ENSP00000493063.1:n.*30T>A
ENST00000642050.2:c.601T>A MANE Select	ENSP00000493153.1:p.Phe201Ile
ENST00000372779.8:c.688T>A	ENSP00000361865.4:p.Phe230Ile
ENST00000433473.7:c.601T>A	ENSP00000394863.3:p.Phe201Ile
ENST00000439754.5:c.286T>A	ENSP00000403207.1:p.Phe96Ile
ENST00000449045.6:c.292T>A	ENSP00000392293.2:p.Phe98Ile
ENST00000527311.6:c.376T>A	ENSP00000436695.2:p.Phe126Ile
ENST00000529905.5:c.601T>A	ENSP00000432053.1:p.Phe201Ile
ENST00000530076.5:c.-57T>A	ENSP00000434007.1:n.-57T>A
ENST00000530704.5:c.*224T>A	ENSP00000431655.1:n.*224T>A
NM_000310.3:c.601T>A , LRG_690t1:c.601T>A	NP_000301.1:p.Phe201Ile
NM_001142604.1:c.292T>A	NP_001136076.1:p.Phe98Ile
XM_005271008.1:c.601T>A	XP_005271065.1:p.Phe201Ile
NM_001363695.1:c.601T>A	NP_001350624.1:p.Phe201Ile
NM_000310.4:c.601T>A MANE Select	NP_000301.1:p.Phe201Ile
NM_001142604.2:c.292T>A	NP_001136076.1:p.Phe98Ile
NM_001363695.2:c.601T>A	NP_001350624.1:p.Phe201Ile