Canonical Allele Identifier: CA339845630

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539810A>G (hg19) ; chr1:g.40074138A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074138A>G , CM000663.2:g.40074138A>G	GRCh38
NC_000001.10:g.40539810A>G , CM000663.1:g.40539810A>G	GRCh37
NC_000001.9:g.40312397A>G	NCBI36
NG_009192.1:g.28333T>C , LRG_690:g.28333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.841T>C	ENSP00000394863.4:p.Phe281Leu
ENST00000439754.6:c.772T>C	ENSP00000403207.2:p.Phe258Leu
ENST00000449045.7:c.535T>C	ENSP00000392293.2:p.Phe179Leu
ENST00000527311.7:c.613T>C	ENSP00000436695.3:p.Phe205Leu
ENST00000530076.6:c.187T>C	ENSP00000434007.1:p.Phe63Leu
ENST00000530704.6:c.*467T>C	ENSP00000431655.1:n.*467T>C
ENST00000641083.1:c.934T>C
ENST00000641236.1:n.1081T>C
ENST00000641319.1:c.*54T>C	ENSP00000493128.1:n.*54T>C
ENST00000641381.1:c.266T>C
ENST00000641471.1:c.931T>C	ENSP00000493146.1:p.Phe311Leu
ENST00000641691.1:c.*696T>C	ENSP00000492910.1:n.*696T>C
ENST00000641924.1:c.*273T>C	ENSP00000493063.1:n.*273T>C
ENST00000642050.2:c.844T>C MANE Select	ENSP00000493153.1:p.Phe282Leu
ENST00000372775.2:n.241T>C
ENST00000433473.7:c.844T>C	ENSP00000394863.3:p.Phe282Leu
ENST00000439754.5:c.457T>C	ENSP00000403207.1:p.Phe153Leu
ENST00000449045.6:c.535T>C	ENSP00000392293.2:p.Phe179Leu
ENST00000529905.5:c.844T>C	ENSP00000432053.1:p.Phe282Leu
ENST00000530076.5:c.187T>C	ENSP00000434007.1:p.Phe63Leu
ENST00000530704.5:c.*467T>C	ENSP00000431655.1:n.*467T>C
NM_000310.3:c.844T>C , LRG_690t1:c.844T>C	NP_000301.1:p.Phe282Leu
NM_001142604.1:c.535T>C	NP_001136076.1:p.Phe179Leu
XM_005271008.1:c.772T>C	XP_005271065.1:p.Phe258Leu
NM_001363695.1:c.772T>C	NP_001350624.1:p.Phe258Leu
NM_000310.4:c.844T>C MANE Select	NP_000301.1:p.Phe282Leu
NM_001142604.2:c.535T>C	NP_001136076.1:p.Phe179Leu
NM_001363695.2:c.772T>C	NP_001350624.1:p.Phe258Leu