Canonical Allele Identifier: CA339845572

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539797T>C (hg19) ; chr1:g.40074125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074125T>C , CM000663.2:g.40074125T>C	GRCh38
NC_000001.10:g.40539797T>C , CM000663.1:g.40539797T>C	GRCh37
NC_000001.9:g.40312384T>C	NCBI36
NG_009192.1:g.28346A>G , LRG_690:g.28346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.854A>G	ENSP00000394863.4:p.Glu285Gly
ENST00000439754.6:c.785A>G	ENSP00000403207.2:p.Glu262Gly
ENST00000449045.7:c.548A>G	ENSP00000392293.2:p.Glu183Gly
ENST00000530076.6:c.200A>G	ENSP00000434007.1:p.Glu67Gly
ENST00000530704.6:c.*480A>G	ENSP00000431655.1:n.*480A>G
ENST00000641083.1:c.947A>G
ENST00000641236.1:n.1094A>G
ENST00000641319.1:c.*67A>G	ENSP00000493128.1:n.*67A>G
ENST00000641381.1:c.279A>G
ENST00000641471.1:c.944A>G	ENSP00000493146.1:p.Glu315Gly
ENST00000641691.1:c.*709A>G	ENSP00000492910.1:n.*709A>G
ENST00000641924.1:c.*286A>G	ENSP00000493063.1:n.*286A>G
ENST00000642050.2:c.857A>G MANE Select	ENSP00000493153.1:p.Glu286Gly
ENST00000372775.2:n.254A>G
ENST00000433473.7:c.857A>G	ENSP00000394863.3:p.Glu286Gly
ENST00000439754.5:c.470A>G	ENSP00000403207.1:p.Glu157Gly
ENST00000449045.6:c.548A>G	ENSP00000392293.2:p.Glu183Gly
ENST00000529905.5:c.857A>G	ENSP00000432053.1:p.Glu286Gly
ENST00000530076.5:c.200A>G	ENSP00000434007.1:p.Glu67Gly
ENST00000530704.5:c.*480A>G	ENSP00000431655.1:n.*480A>G
NM_000310.3:c.857A>G , LRG_690t1:c.857A>G	NP_000301.1:p.Glu286Gly
NM_001142604.1:c.548A>G	NP_001136076.1:p.Glu183Gly
XM_005271008.1:c.785A>G	XP_005271065.1:p.Glu262Gly
NM_001363695.1:c.785A>G	NP_001350624.1:p.Glu262Gly
NM_000310.4:c.857A>G MANE Select	NP_000301.1:p.Glu286Gly
NM_001142604.2:c.548A>G	NP_001136076.1:p.Glu183Gly
NM_001363695.2:c.785A>G	NP_001350624.1:p.Glu262Gly