Canonical Allele Identifier: CA339845416

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539765A>C (hg19) ; chr1:g.40074093A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074093A>C , CM000663.2:g.40074093A>C	GRCh38
NC_000001.10:g.40539765A>C , CM000663.1:g.40539765A>C	GRCh37
NC_000001.9:g.40312352A>C	NCBI36
NG_009192.1:g.28378T>G , LRG_690:g.28378T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.886T>G	ENSP00000394863.4:p.Phe296Val
ENST00000439754.6:c.817T>G	ENSP00000403207.2:p.Phe273Val
ENST00000449045.7:c.580T>G	ENSP00000392293.2:p.Phe194Val
ENST00000530076.6:c.232T>G	ENSP00000434007.1:p.Phe78Val
ENST00000530704.6:c.*512T>G	ENSP00000431655.1:n.*512T>G
ENST00000641083.1:c.979T>G
ENST00000641236.1:n.1126T>G
ENST00000641319.1:c.*99T>G	ENSP00000493128.1:n.*99T>G
ENST00000641381.1:c.311T>G
ENST00000641471.1:c.976T>G	ENSP00000493146.1:p.Phe326Val
ENST00000641691.1:c.*741T>G	ENSP00000492910.1:n.*741T>G
ENST00000641924.1:c.*318T>G	ENSP00000493063.1:n.*318T>G
ENST00000642050.2:c.889T>G MANE Select	ENSP00000493153.1:p.Phe297Val
ENST00000372775.2:n.286T>G
ENST00000433473.7:c.889T>G	ENSP00000394863.3:p.Phe297Val
ENST00000439754.5:c.502T>G	ENSP00000403207.1:p.Phe168Val
ENST00000449045.6:c.580T>G	ENSP00000392293.2:p.Phe194Val
ENST00000529905.5:c.889T>G	ENSP00000432053.1:p.Phe297Val
ENST00000530076.5:c.232T>G	ENSP00000434007.1:p.Phe78Val
ENST00000530704.5:c.*512T>G	ENSP00000431655.1:n.*512T>G
NM_000310.3:c.889T>G , LRG_690t1:c.889T>G	NP_000301.1:p.Phe297Val
NM_001142604.1:c.580T>G	NP_001136076.1:p.Phe194Val
XM_005271008.1:c.817T>G	XP_005271065.1:p.Phe273Val
NM_001363695.1:c.817T>G	NP_001350624.1:p.Phe273Val
NM_000310.4:c.889T>G MANE Select	NP_000301.1:p.Phe297Val
NM_001142604.2:c.580T>G	NP_001136076.1:p.Phe194Val
NM_001363695.2:c.817T>G	NP_001350624.1:p.Phe273Val