Canonical Allele Identifier: CA339845405

Gene: PPT1

Linked Data

• COSMIC: COSM331194
• MyVariant Identifiers: chr1:g.40539763A>C (hg19) ; chr1:g.40074091A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074091A>C , CM000663.2:g.40074091A>C	GRCh38
NC_000001.10:g.40539763A>C , CM000663.1:g.40539763A>C	GRCh37
NC_000001.9:g.40312350A>C	NCBI36
NG_009192.1:g.28380T>G , LRG_690:g.28380T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.888T>G	ENSP00000394863.4:p.Phe296Leu
ENST00000439754.6:c.819T>G	ENSP00000403207.2:p.Phe273Leu
ENST00000449045.7:c.582T>G	ENSP00000392293.2:p.Phe194Leu
ENST00000530076.6:c.234T>G	ENSP00000434007.1:p.Phe78Leu
ENST00000530704.6:c.*514T>G	ENSP00000431655.1:n.*514T>G
ENST00000641083.1:c.981T>G
ENST00000641236.1:n.1128T>G
ENST00000641319.1:c.*101T>G	ENSP00000493128.1:n.*101T>G
ENST00000641381.1:c.313T>G
ENST00000641471.1:c.978T>G	ENSP00000493146.1:p.Phe326Leu
ENST00000641691.1:c.*743T>G	ENSP00000492910.1:n.*743T>G
ENST00000641924.1:c.*320T>G	ENSP00000493063.1:n.*320T>G
ENST00000642050.2:c.891T>G MANE Select	ENSP00000493153.1:p.Phe297Leu
ENST00000372775.2:n.288T>G
ENST00000433473.7:c.891T>G	ENSP00000394863.3:p.Phe297Leu
ENST00000439754.5:c.504T>G	ENSP00000403207.1:p.Phe168Leu
ENST00000449045.6:c.582T>G	ENSP00000392293.2:p.Phe194Leu
ENST00000529905.5:c.891T>G	ENSP00000432053.1:p.Phe297Leu
ENST00000530076.5:c.234T>G	ENSP00000434007.1:p.Phe78Leu
ENST00000530704.5:c.*514T>G	ENSP00000431655.1:n.*514T>G
NM_000310.3:c.891T>G , LRG_690t1:c.891T>G	NP_000301.1:p.Phe297Leu
NM_001142604.1:c.582T>G	NP_001136076.1:p.Phe194Leu
XM_005271008.1:c.819T>G	XP_005271065.1:p.Phe273Leu
NM_001363695.1:c.819T>G	NP_001350624.1:p.Phe273Leu
NM_000310.4:c.891T>G MANE Select	NP_000301.1:p.Phe297Leu
NM_001142604.2:c.582T>G	NP_001136076.1:p.Phe194Leu
NM_001363695.2:c.819T>G	NP_001350624.1:p.Phe273Leu