Canonical Allele Identifier: CA339845761

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539836T>G (hg19) ; chr1:g.40074164T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074164T>G , CM000663.2:g.40074164T>G	GRCh38
NC_000001.10:g.40539836T>G , CM000663.1:g.40539836T>G	GRCh37
NC_000001.9:g.40312423T>G	NCBI36
NG_009192.1:g.28307A>C , LRG_690:g.28307A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.815A>C	ENSP00000394863.4:p.Glu272Ala
ENST00000439754.6:c.746A>C	ENSP00000403207.2:p.Glu249Ala
ENST00000449045.7:c.509A>C	ENSP00000392293.2:p.Glu170Ala
ENST00000527311.7:c.587A>C	ENSP00000436695.3:p.Glu196Ala
ENST00000530076.6:c.161A>C	ENSP00000434007.1:p.Glu54Ala
ENST00000530704.6:c.*441A>C	ENSP00000431655.1:n.*441A>C
ENST00000641083.1:c.908A>C
ENST00000641236.1:n.1055A>C
ENST00000641319.1:c.*28A>C	ENSP00000493128.1:n.*28A>C
ENST00000641381.1:c.240A>C
ENST00000641471.1:c.905A>C	ENSP00000493146.1:p.Glu302Ala
ENST00000641691.1:c.*670A>C	ENSP00000492910.1:n.*670A>C
ENST00000641924.1:c.*247A>C	ENSP00000493063.1:n.*247A>C
ENST00000642050.2:c.818A>C MANE Select	ENSP00000493153.1:p.Glu273Ala
ENST00000372775.2:n.215A>C
ENST00000433473.7:c.818A>C	ENSP00000394863.3:p.Glu273Ala
ENST00000439754.5:c.431A>C	ENSP00000403207.1:p.Glu144Ala
ENST00000449045.6:c.509A>C	ENSP00000392293.2:p.Glu170Ala
ENST00000527311.6:c.593A>C	ENSP00000436695.2:p.Glu198Ala
ENST00000529905.5:c.818A>C	ENSP00000432053.1:p.Glu273Ala
ENST00000530076.5:c.161A>C	ENSP00000434007.1:p.Glu54Ala
ENST00000530704.5:c.*441A>C	ENSP00000431655.1:n.*441A>C
NM_000310.3:c.818A>C , LRG_690t1:c.818A>C	NP_000301.1:p.Glu273Ala
NM_001142604.1:c.509A>C	NP_001136076.1:p.Glu170Ala
XM_005271008.1:c.746A>C	XP_005271065.1:p.Glu249Ala
NM_001363695.1:c.746A>C	NP_001350624.1:p.Glu249Ala
NM_000310.4:c.818A>C MANE Select	NP_000301.1:p.Glu273Ala
NM_001142604.2:c.509A>C	NP_001136076.1:p.Glu170Ala
NM_001363695.2:c.746A>C	NP_001350624.1:p.Glu249Ala