Canonical Allele Identifier: CA339845716

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539829G>C (hg19) ; chr1:g.40074157G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074157G>C , CM000663.2:g.40074157G>C	GRCh38
NC_000001.10:g.40539829G>C , CM000663.1:g.40539829G>C	GRCh37
NC_000001.9:g.40312416G>C	NCBI36
NG_009192.1:g.28314C>G , LRG_690:g.28314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.822C>G	ENSP00000394863.4:p.Asp274Glu
ENST00000439754.6:c.753C>G	ENSP00000403207.2:p.Asp251Glu
ENST00000449045.7:c.516C>G	ENSP00000392293.2:p.Asp172Glu
ENST00000527311.7:c.594C>G	ENSP00000436695.3:p.Asp198Glu
ENST00000530076.6:c.168C>G	ENSP00000434007.1:p.Asp56Glu
ENST00000530704.6:c.*448C>G	ENSP00000431655.1:n.*448C>G
ENST00000641083.1:c.915C>G
ENST00000641236.1:n.1062C>G
ENST00000641319.1:c.*35C>G	ENSP00000493128.1:n.*35C>G
ENST00000641381.1:c.247C>G
ENST00000641471.1:c.912C>G	ENSP00000493146.1:p.Asp304Glu
ENST00000641691.1:c.*677C>G	ENSP00000492910.1:n.*677C>G
ENST00000641924.1:c.*254C>G	ENSP00000493063.1:n.*254C>G
ENST00000642050.2:c.825C>G MANE Select	ENSP00000493153.1:p.Asp275Glu
ENST00000372775.2:n.222C>G
ENST00000433473.7:c.825C>G	ENSP00000394863.3:p.Asp275Glu
ENST00000439754.5:c.438C>G	ENSP00000403207.1:p.Asp146Glu
ENST00000449045.6:c.516C>G	ENSP00000392293.2:p.Asp172Glu
ENST00000527311.6:c.600C>G	ENSP00000436695.2:p.Asp200Glu
ENST00000529905.5:c.825C>G	ENSP00000432053.1:p.Asp275Glu
ENST00000530076.5:c.168C>G	ENSP00000434007.1:p.Asp56Glu
ENST00000530704.5:c.*448C>G	ENSP00000431655.1:n.*448C>G
NM_000310.3:c.825C>G , LRG_690t1:c.825C>G	NP_000301.1:p.Asp275Glu
NM_001142604.1:c.516C>G	NP_001136076.1:p.Asp172Glu
XM_005271008.1:c.753C>G	XP_005271065.1:p.Asp251Glu
NM_001363695.1:c.753C>G	NP_001350624.1:p.Asp251Glu
NM_000310.4:c.825C>G MANE Select	NP_000301.1:p.Asp275Glu
NM_001142604.2:c.516C>G	NP_001136076.1:p.Asp172Glu
NM_001363695.2:c.753C>G	NP_001350624.1:p.Asp251Glu