Canonical Allele Identifier: CA339845313

Gene: PPT1

Linked Data

• dbSNP Id: rs1557704819
• MyVariant Identifiers: chr1:g.40539744A>T (hg19) ; chr1:g.40074072A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074072A>T , CM000663.2:g.40074072A>T	GRCh38
NC_000001.10:g.40539744A>T , CM000663.1:g.40539744A>T	GRCh37
NC_000001.9:g.40312331A>T	NCBI36
NG_009192.1:g.28399T>A , LRG_690:g.28399T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.907T>A	ENSP00000394863.4:p.Phe303Ile
ENST00000439754.6:c.838T>A	ENSP00000403207.2:p.Phe280Ile
ENST00000449045.7:c.601T>A	ENSP00000392293.2:p.Phe201Ile
ENST00000530076.6:c.253T>A	ENSP00000434007.1:p.Phe85Ile
ENST00000530704.6:c.*533T>A	ENSP00000431655.1:n.*533T>A
ENST00000641083.1:c.1000T>A
ENST00000641236.1:n.1147T>A
ENST00000641319.1:c.*120T>A	ENSP00000493128.1:n.*120T>A
ENST00000641381.1:c.332T>A
ENST00000641471.1:c.997T>A	ENSP00000493146.1:p.Phe333Ile
ENST00000641691.1:c.*762T>A	ENSP00000492910.1:n.*762T>A
ENST00000641924.1:c.*339T>A	ENSP00000493063.1:n.*339T>A
ENST00000642050.2:c.910T>A MANE Select	ENSP00000493153.1:p.Phe304Ile
ENST00000372775.2:n.307T>A
ENST00000433473.7:c.910T>A	ENSP00000394863.3:p.Phe304Ile
ENST00000439754.5:c.523T>A	ENSP00000403207.1:p.Phe175Ile
ENST00000449045.6:c.601T>A	ENSP00000392293.2:p.Phe201Ile
ENST00000529905.5:c.910T>A	ENSP00000432053.1:p.Phe304Ile
ENST00000530076.5:c.253T>A	ENSP00000434007.1:p.Phe85Ile
ENST00000530704.5:c.*533T>A	ENSP00000431655.1:n.*533T>A
NM_000310.3:c.910T>A , LRG_690t1:c.910T>A	NP_000301.1:p.Phe304Ile
NM_001142604.1:c.601T>A	NP_001136076.1:p.Phe201Ile
XM_005271008.1:c.838T>A	XP_005271065.1:p.Phe280Ile
NM_001363695.1:c.838T>A	NP_001350624.1:p.Phe280Ile
NM_000310.4:c.910T>A MANE Select	NP_000301.1:p.Phe304Ile
NM_001142604.2:c.601T>A	NP_001136076.1:p.Phe201Ile
NM_001363695.2:c.838T>A	NP_001350624.1:p.Phe280Ile