Canonical Allele Identifier: CA339845688

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539824G>T (hg19) ; chr1:g.40074152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074152G>T , CM000663.2:g.40074152G>T	GRCh38
NC_000001.10:g.40539824G>T , CM000663.1:g.40539824G>T	GRCh37
NC_000001.9:g.40312411G>T	NCBI36
NG_009192.1:g.28319C>A , LRG_690:g.28319C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.827C>A	ENSP00000394863.4:p.Ala276Glu
ENST00000439754.6:c.758C>A	ENSP00000403207.2:p.Ala253Glu
ENST00000449045.7:c.521C>A	ENSP00000392293.2:p.Ala174Glu
ENST00000527311.7:c.599C>A	ENSP00000436695.3:p.Ala200Glu
ENST00000530076.6:c.173C>A	ENSP00000434007.1:p.Ala58Glu
ENST00000530704.6:c.*453C>A	ENSP00000431655.1:n.*453C>A
ENST00000641083.1:c.920C>A
ENST00000641236.1:n.1067C>A
ENST00000641319.1:c.*40C>A	ENSP00000493128.1:n.*40C>A
ENST00000641381.1:c.252C>A
ENST00000641471.1:c.917C>A	ENSP00000493146.1:p.Ala306Glu
ENST00000641691.1:c.*682C>A	ENSP00000492910.1:n.*682C>A
ENST00000641924.1:c.*259C>A	ENSP00000493063.1:n.*259C>A
ENST00000642050.2:c.830C>A MANE Select	ENSP00000493153.1:p.Ala277Glu
ENST00000372775.2:n.227C>A
ENST00000433473.7:c.830C>A	ENSP00000394863.3:p.Ala277Glu
ENST00000439754.5:c.443C>A	ENSP00000403207.1:p.Ala148Glu
ENST00000449045.6:c.521C>A	ENSP00000392293.2:p.Ala174Glu
ENST00000527311.6:c.605C>A	ENSP00000436695.2:p.Ala202Glu
ENST00000529905.5:c.830C>A	ENSP00000432053.1:p.Ala277Glu
ENST00000530076.5:c.173C>A	ENSP00000434007.1:p.Ala58Glu
ENST00000530704.5:c.*453C>A	ENSP00000431655.1:n.*453C>A
NM_000310.3:c.830C>A , LRG_690t1:c.830C>A	NP_000301.1:p.Ala277Glu
NM_001142604.1:c.521C>A	NP_001136076.1:p.Ala174Glu
XM_005271008.1:c.758C>A	XP_005271065.1:p.Ala253Glu
NM_001363695.1:c.758C>A	NP_001350624.1:p.Ala253Glu
NM_000310.4:c.830C>A MANE Select	NP_000301.1:p.Ala277Glu
NM_001142604.2:c.521C>A	NP_001136076.1:p.Ala174Glu
NM_001363695.2:c.758C>A	NP_001350624.1:p.Ala253Glu