Canonical Allele Identifier: CA339845638

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539812A>T (hg19) ; chr1:g.40074140A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074140A>T , CM000663.2:g.40074140A>T	GRCh38
NC_000001.10:g.40539812A>T , CM000663.1:g.40539812A>T	GRCh37
NC_000001.9:g.40312399A>T	NCBI36
NG_009192.1:g.28331T>A , LRG_690:g.28331T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.839T>A	ENSP00000394863.4:p.Val280Glu
ENST00000439754.6:c.770T>A	ENSP00000403207.2:p.Val257Glu
ENST00000449045.7:c.533T>A	ENSP00000392293.2:p.Val178Glu
ENST00000527311.7:c.611T>A	ENSP00000436695.3:p.Val204Glu
ENST00000530076.6:c.185T>A	ENSP00000434007.1:p.Val62Glu
ENST00000530704.6:c.*465T>A	ENSP00000431655.1:n.*465T>A
ENST00000641083.1:c.932T>A
ENST00000641236.1:n.1079T>A
ENST00000641319.1:c.*52T>A	ENSP00000493128.1:n.*52T>A
ENST00000641381.1:c.264T>A
ENST00000641471.1:c.929T>A	ENSP00000493146.1:p.Val310Glu
ENST00000641691.1:c.*694T>A	ENSP00000492910.1:n.*694T>A
ENST00000641924.1:c.*271T>A	ENSP00000493063.1:n.*271T>A
ENST00000642050.2:c.842T>A MANE Select	ENSP00000493153.1:p.Val281Glu
ENST00000372775.2:n.239T>A
ENST00000433473.7:c.842T>A	ENSP00000394863.3:p.Val281Glu
ENST00000439754.5:c.455T>A	ENSP00000403207.1:p.Val152Glu
ENST00000449045.6:c.533T>A	ENSP00000392293.2:p.Val178Glu
ENST00000529905.5:c.842T>A	ENSP00000432053.1:p.Val281Glu
ENST00000530076.5:c.185T>A	ENSP00000434007.1:p.Val62Glu
ENST00000530704.5:c.*465T>A	ENSP00000431655.1:n.*465T>A
NM_000310.3:c.842T>A , LRG_690t1:c.842T>A	NP_000301.1:p.Val281Glu
NM_001142604.1:c.533T>A	NP_001136076.1:p.Val178Glu
XM_005271008.1:c.770T>A	XP_005271065.1:p.Val257Glu
NM_001363695.1:c.770T>A	NP_001350624.1:p.Val257Glu
NM_000310.4:c.842T>A MANE Select	NP_000301.1:p.Val281Glu
NM_001142604.2:c.533T>A	NP_001136076.1:p.Val178Glu
NM_001363695.2:c.770T>A	NP_001350624.1:p.Val257Glu