Canonical Allele Identifier: CA339845661

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539818T>A (hg19) ; chr1:g.40074146T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074146T>A , CM000663.2:g.40074146T>A	GRCh38
NC_000001.10:g.40539818T>A , CM000663.1:g.40539818T>A	GRCh37
NC_000001.9:g.40312405T>A	NCBI36
NG_009192.1:g.28325A>T , LRG_690:g.28325A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.833A>T	ENSP00000394863.4:p.Gln278Leu
ENST00000439754.6:c.764A>T	ENSP00000403207.2:p.Gln255Leu
ENST00000449045.7:c.527A>T	ENSP00000392293.2:p.Gln176Leu
ENST00000527311.7:c.605A>T	ENSP00000436695.3:p.Gln202Leu
ENST00000530076.6:c.179A>T	ENSP00000434007.1:p.Gln60Leu
ENST00000530704.6:c.*459A>T	ENSP00000431655.1:n.*459A>T
ENST00000641083.1:c.926A>T
ENST00000641236.1:n.1073A>T
ENST00000641319.1:c.*46A>T	ENSP00000493128.1:n.*46A>T
ENST00000641381.1:c.258A>T
ENST00000641471.1:c.923A>T	ENSP00000493146.1:p.Gln308Leu
ENST00000641691.1:c.*688A>T	ENSP00000492910.1:n.*688A>T
ENST00000641924.1:c.*265A>T	ENSP00000493063.1:n.*265A>T
ENST00000642050.2:c.836A>T MANE Select	ENSP00000493153.1:p.Gln279Leu
ENST00000372775.2:n.233A>T
ENST00000433473.7:c.836A>T	ENSP00000394863.3:p.Gln279Leu
ENST00000439754.5:c.449A>T	ENSP00000403207.1:p.Gln150Leu
ENST00000449045.6:c.527A>T	ENSP00000392293.2:p.Gln176Leu
ENST00000527311.6:c.611A>T	ENSP00000436695.2:p.Gln204Leu
ENST00000529905.5:c.836A>T	ENSP00000432053.1:p.Gln279Leu
ENST00000530076.5:c.179A>T	ENSP00000434007.1:p.Gln60Leu
ENST00000530704.5:c.*459A>T	ENSP00000431655.1:n.*459A>T
NM_000310.3:c.836A>T , LRG_690t1:c.836A>T	NP_000301.1:p.Gln279Leu
NM_001142604.1:c.527A>T	NP_001136076.1:p.Gln176Leu
XM_005271008.1:c.764A>T	XP_005271065.1:p.Gln255Leu
NM_001363695.1:c.764A>T	NP_001350624.1:p.Gln255Leu
NM_000310.4:c.836A>T MANE Select	NP_000301.1:p.Gln279Leu
NM_001142604.2:c.527A>T	NP_001136076.1:p.Gln176Leu
NM_001363695.2:c.764A>T	NP_001350624.1:p.Gln255Leu