Canonical Allele Identifier: CA339845417

Gene: PPT1

Linked Data

• dbSNP Id: rs1648433393
• MyVariant Identifiers: chr1:g.40539765A>G (hg19) ; chr1:g.40074093A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.886T>C	ENSP00000394863.4:p.Phe296Leu
ENST00000439754.6:c.817T>C	ENSP00000403207.2:p.Phe273Leu
ENST00000449045.7:c.580T>C	ENSP00000392293.2:p.Phe194Leu
ENST00000530076.6:c.232T>C	ENSP00000434007.1:p.Phe78Leu
ENST00000530704.6:c.*512T>C	ENSP00000431655.1:n.*512T>C
ENST00000641083.1:c.979T>C
ENST00000641236.1:n.1126T>C
ENST00000641319.1:c.*99T>C	ENSP00000493128.1:n.*99T>C
ENST00000641381.1:c.311T>C
ENST00000641471.1:c.976T>C	ENSP00000493146.1:p.Phe326Leu
ENST00000641691.1:c.*741T>C	ENSP00000492910.1:n.*741T>C
ENST00000641924.1:c.*318T>C	ENSP00000493063.1:n.*318T>C
ENST00000642050.2:c.889T>C MANE Select	ENSP00000493153.1:p.Phe297Leu
ENST00000372775.2:n.286T>C
ENST00000433473.7:c.889T>C	ENSP00000394863.3:p.Phe297Leu
ENST00000439754.5:c.502T>C	ENSP00000403207.1:p.Phe168Leu
ENST00000449045.6:c.580T>C	ENSP00000392293.2:p.Phe194Leu
ENST00000529905.5:c.889T>C	ENSP00000432053.1:p.Phe297Leu
ENST00000530076.5:c.232T>C	ENSP00000434007.1:p.Phe78Leu
ENST00000530704.5:c.*512T>C	ENSP00000431655.1:n.*512T>C
NM_000310.3:c.889T>C , LRG_690t1:c.889T>C	NP_000301.1:p.Phe297Leu
NM_001142604.1:c.580T>C	NP_001136076.1:p.Phe194Leu
XM_005271008.1:c.817T>C	XP_005271065.1:p.Phe273Leu
NM_001363695.1:c.817T>C	NP_001350624.1:p.Phe273Leu
NM_000310.4:c.889T>C MANE Select	NP_000301.1:p.Phe297Leu
NM_001142604.2:c.580T>C	NP_001136076.1:p.Phe194Leu
NM_001363695.2:c.817T>C	NP_001350624.1:p.Phe273Leu