Canonical Allele Identifier: CA339846608

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544247G>T (hg19) ; chr1:g.40078575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078575G>T , CM000663.2:g.40078575G>T	GRCh38
NC_000001.10:g.40544247G>T , CM000663.1:g.40544247G>T	GRCh37
NC_000001.9:g.40316834G>T	NCBI36
NG_009192.1:g.23896C>A , LRG_690:g.23896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.708C>A	ENSP00000394863.4:p.Asp236Glu
ENST00000439754.6:c.711C>A	ENSP00000403207.2:p.Asp237Glu
ENST00000449045.7:c.402C>A	ENSP00000392293.2:p.Asp134Glu
ENST00000527311.7:c.480C>A	ENSP00000436695.3:p.Asp160Glu
ENST00000530076.6:c.54C>A	ENSP00000434007.1:p.Asp18Glu
ENST00000530704.6:c.*334C>A	ENSP00000431655.1:n.*334C>A
ENST00000641083.1:c.689C>A
ENST00000641236.1:n.948C>A
ENST00000641319.1:c.711C>A	ENSP00000493128.1:p.Asp237Glu
ENST00000641381.1:c.149-1662C>A
ENST00000641471.1:c.798C>A	ENSP00000493146.1:p.Asp266Glu
ENST00000641691.1:c.*563C>A	ENSP00000492910.1:n.*563C>A
ENST00000641924.1:c.*140C>A	ENSP00000493063.1:n.*140C>A
ENST00000642050.2:c.711C>A MANE Select	ENSP00000493153.1:p.Asp237Glu
ENST00000372775.2:n.108C>A
ENST00000372779.8:c.798C>A	ENSP00000361865.4:p.Asp266Glu
ENST00000433473.7:c.711C>A	ENSP00000394863.3:p.Asp237Glu
ENST00000439754.5:c.396C>A	ENSP00000403207.1:p.Asp132Glu
ENST00000449045.6:c.402C>A	ENSP00000392293.2:p.Asp134Glu
ENST00000527311.6:c.486C>A	ENSP00000436695.2:p.Asp162Glu
ENST00000529905.5:c.711C>A	ENSP00000432053.1:p.Asp237Glu
ENST00000530076.5:c.54C>A	ENSP00000434007.1:p.Asp18Glu
ENST00000530704.5:c.*334C>A	ENSP00000431655.1:n.*334C>A
NM_000310.3:c.711C>A , LRG_690t1:c.711C>A	NP_000301.1:p.Asp237Glu
NM_001142604.1:c.402C>A	NP_001136076.1:p.Asp134Glu
XM_005271008.1:c.711C>A	XP_005271065.1:p.Asp237Glu
NM_001363695.1:c.711C>A	NP_001350624.1:p.Asp237Glu
NM_000310.4:c.711C>A MANE Select	NP_000301.1:p.Asp237Glu
NM_001142604.2:c.402C>A	NP_001136076.1:p.Asp134Glu
NM_001363695.2:c.711C>A	NP_001350624.1:p.Asp237Glu