Canonical Allele Identifier: CA339845541

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539790G>C (hg19) ; chr1:g.40074118G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074118G>C , CM000663.2:g.40074118G>C	GRCh38
NC_000001.10:g.40539790G>C , CM000663.1:g.40539790G>C	GRCh37
NC_000001.9:g.40312377G>C	NCBI36
NG_009192.1:g.28353C>G , LRG_690:g.28353C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.861C>G	ENSP00000394863.4:p.Asp287Glu
ENST00000439754.6:c.792C>G	ENSP00000403207.2:p.Asp264Glu
ENST00000449045.7:c.555C>G	ENSP00000392293.2:p.Asp185Glu
ENST00000530076.6:c.207C>G	ENSP00000434007.1:p.Asp69Glu
ENST00000530704.6:c.*487C>G	ENSP00000431655.1:n.*487C>G
ENST00000641083.1:c.954C>G
ENST00000641236.1:n.1101C>G
ENST00000641319.1:c.*74C>G	ENSP00000493128.1:n.*74C>G
ENST00000641381.1:c.286C>G
ENST00000641471.1:c.951C>G	ENSP00000493146.1:p.Asp317Glu
ENST00000641691.1:c.*716C>G	ENSP00000492910.1:n.*716C>G
ENST00000641924.1:c.*293C>G	ENSP00000493063.1:n.*293C>G
ENST00000642050.2:c.864C>G MANE Select	ENSP00000493153.1:p.Asp288Glu
ENST00000372775.2:n.261C>G
ENST00000433473.7:c.864C>G	ENSP00000394863.3:p.Asp288Glu
ENST00000439754.5:c.477C>G	ENSP00000403207.1:p.Asp159Glu
ENST00000449045.6:c.555C>G	ENSP00000392293.2:p.Asp185Glu
ENST00000529905.5:c.864C>G	ENSP00000432053.1:p.Asp288Glu
ENST00000530076.5:c.207C>G	ENSP00000434007.1:p.Asp69Glu
ENST00000530704.5:c.*487C>G	ENSP00000431655.1:n.*487C>G
NM_000310.3:c.864C>G , LRG_690t1:c.864C>G	NP_000301.1:p.Asp288Glu
NM_001142604.1:c.555C>G	NP_001136076.1:p.Asp185Glu
XM_005271008.1:c.792C>G	XP_005271065.1:p.Asp264Glu
NM_001363695.1:c.792C>G	NP_001350624.1:p.Asp264Glu
NM_000310.4:c.864C>G MANE Select	NP_000301.1:p.Asp288Glu
NM_001142604.2:c.555C>G	NP_001136076.1:p.Asp185Glu
NM_001363695.2:c.792C>G	NP_001350624.1:p.Asp264Glu