Canonical Allele Identifier: CA339845704

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539827T>A (hg19) ; chr1:g.40074155T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074155T>A , CM000663.2:g.40074155T>A	GRCh38
NC_000001.10:g.40539827T>A , CM000663.1:g.40539827T>A	GRCh37
NC_000001.9:g.40312414T>A	NCBI36
NG_009192.1:g.28316A>T , LRG_690:g.28316A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.824A>T	ENSP00000394863.4:p.Asn275Ile
ENST00000439754.6:c.755A>T	ENSP00000403207.2:p.Asn252Ile
ENST00000449045.7:c.518A>T	ENSP00000392293.2:p.Asn173Ile
ENST00000527311.7:c.596A>T	ENSP00000436695.3:p.Asn199Ile
ENST00000530076.6:c.170A>T	ENSP00000434007.1:p.Asn57Ile
ENST00000530704.6:c.*450A>T	ENSP00000431655.1:n.*450A>T
ENST00000641083.1:c.917A>T
ENST00000641236.1:n.1064A>T
ENST00000641319.1:c.*37A>T	ENSP00000493128.1:n.*37A>T
ENST00000641381.1:c.249A>T
ENST00000641471.1:c.914A>T	ENSP00000493146.1:p.Asn305Ile
ENST00000641691.1:c.*679A>T	ENSP00000492910.1:n.*679A>T
ENST00000641924.1:c.*256A>T	ENSP00000493063.1:n.*256A>T
ENST00000642050.2:c.827A>T MANE Select	ENSP00000493153.1:p.Asn276Ile
ENST00000372775.2:n.224A>T
ENST00000433473.7:c.827A>T	ENSP00000394863.3:p.Asn276Ile
ENST00000439754.5:c.440A>T	ENSP00000403207.1:p.Asn147Ile
ENST00000449045.6:c.518A>T	ENSP00000392293.2:p.Asn173Ile
ENST00000527311.6:c.602A>T	ENSP00000436695.2:p.Asn201Ile
ENST00000529905.5:c.827A>T	ENSP00000432053.1:p.Asn276Ile
ENST00000530076.5:c.170A>T	ENSP00000434007.1:p.Asn57Ile
ENST00000530704.5:c.*450A>T	ENSP00000431655.1:n.*450A>T
NM_000310.3:c.827A>T , LRG_690t1:c.827A>T	NP_000301.1:p.Asn276Ile
NM_001142604.1:c.518A>T	NP_001136076.1:p.Asn173Ile
XM_005271008.1:c.755A>T	XP_005271065.1:p.Asn252Ile
NM_001363695.1:c.755A>T	NP_001350624.1:p.Asn252Ile
NM_000310.4:c.827A>T MANE Select	NP_000301.1:p.Asn276Ile
NM_001142604.2:c.518A>T	NP_001136076.1:p.Asn173Ile
NM_001363695.2:c.755A>T	NP_001350624.1:p.Asn252Ile