Canonical Allele Identifier: CA1000853993

Gene: PPT1

Linked Data

• dbSNP Id: rs1648424131
• gnomAD v3: 1-40074023-T-A
• gnomAD v4: 1-40074023-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074023T>A , CM000663.2:g.40074023T>A	GRCh38
NC_000001.10:g.40539695T>A , CM000663.1:g.40539695T>A	GRCh37
NC_000001.9:g.40312282T>A	NCBI36
NG_009192.1:g.28448A>T , LRG_690:g.28448A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*38A>T	ENSP00000394863.4:n.*38A>T
ENST00000439754.6:c.*38A>T	ENSP00000403207.2:n.*38A>T
ENST00000449045.7:c.*38A>T	ENSP00000392293.2:n.*38A>T
ENST00000530076.6:c.*38A>T	ENSP00000434007.1:n.*38A>T
ENST00000530704.6:c.*582A>T	ENSP00000431655.1:n.*582A>T
ENST00000641083.1:c.1049A>T
ENST00000641236.1:n.1196A>T
ENST00000641319.1:c.*169A>T	ENSP00000493128.1:n.*169A>T
ENST00000641381.1:c.381A>T
ENST00000641471.1:c.*38A>T	ENSP00000493146.1:n.*38A>T
ENST00000641691.1:c.*811A>T	ENSP00000492910.1:n.*811A>T
ENST00000642050.2:c.*38A>T MANE Select	ENSP00000493153.1:n.*38A>T
ENST00000372775.2:n.356A>T
ENST00000433473.7:c.*38A>T	ENSP00000394863.3:n.*38A>T
ENST00000439754.5:c.572A>T	ENSP00000403207.1:n.572A>T
ENST00000449045.6:c.*38A>T	ENSP00000392293.2:n.*38A>T
ENST00000529905.5:c.*38A>T	ENSP00000432053.1:n.*38A>T
ENST00000530704.5:c.*582A>T	ENSP00000431655.1:n.*582A>T
NM_000310.3:c.*38A>T , LRG_690t1:c.*38A>T	NP_000301.1:n.*38A>T
NM_001142604.1:c.*38A>T	NP_001136076.1:n.*38A>T
XM_005271008.1:c.*38A>T	XP_005271065.1:n.*38A>T
NM_001363695.1:c.*38A>T	NP_001350624.1:n.*38A>T
NM_000310.4:c.*38A>T MANE Select	NP_000301.1:n.*38A>T
NM_001142604.2:c.*38A>T	NP_001136076.1:n.*38A>T
NM_001363695.2:c.*38A>T	NP_001350624.1:n.*38A>T