Canonical Allele Identifier: CA789550

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1400941
• ClinVar RCV Id: RCV001911572 ; RCV003348595
• dbSNP Id: rs775402028
• ExAC: 1:40539830 T / A
• gnomAD v2: 1-40539830-T-A
• gnomAD v4: 1-40074158-T-A
• MyVariant Identifiers: chr1:g.40539830T>A (hg19) ; chr1:g.40074158T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074158T>A , CM000663.2:g.40074158T>A	GRCh38
NC_000001.10:g.40539830T>A , CM000663.1:g.40539830T>A	GRCh37
NC_000001.9:g.40312417T>A	NCBI36
NG_009192.1:g.28313A>T , LRG_690:g.28313A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.821A>T	ENSP00000394863.4:p.Asp274Val
ENST00000439754.6:c.752A>T	ENSP00000403207.2:p.Asp251Val
ENST00000449045.7:c.515A>T	ENSP00000392293.2:p.Asp172Val
ENST00000527311.7:c.593A>T	ENSP00000436695.3:p.Asp198Val
ENST00000530076.6:c.167A>T	ENSP00000434007.1:p.Asp56Val
ENST00000530704.6:c.*447A>T	ENSP00000431655.1:n.*447A>T
ENST00000641083.1:c.914A>T
ENST00000641236.1:n.1061A>T
ENST00000641319.1:c.*34A>T	ENSP00000493128.1:n.*34A>T
ENST00000641381.1:c.246A>T
ENST00000641471.1:c.911A>T	ENSP00000493146.1:p.Asp304Val
ENST00000641691.1:c.*676A>T	ENSP00000492910.1:n.*676A>T
ENST00000641924.1:c.*253A>T	ENSP00000493063.1:n.*253A>T
ENST00000642050.2:c.824A>T MANE Select	ENSP00000493153.1:p.Asp275Val
ENST00000372775.2:n.221A>T
ENST00000433473.7:c.824A>T	ENSP00000394863.3:p.Asp275Val
ENST00000439754.5:c.437A>T	ENSP00000403207.1:p.Asp146Val
ENST00000449045.6:c.515A>T	ENSP00000392293.2:p.Asp172Val
ENST00000527311.6:c.599A>T	ENSP00000436695.2:p.Asp200Val
ENST00000529905.5:c.824A>T	ENSP00000432053.1:p.Asp275Val
ENST00000530076.5:c.167A>T	ENSP00000434007.1:p.Asp56Val
ENST00000530704.5:c.*447A>T	ENSP00000431655.1:n.*447A>T
NM_000310.3:c.824A>T , LRG_690t1:c.824A>T	NP_000301.1:p.Asp275Val
NM_001142604.1:c.515A>T	NP_001136076.1:p.Asp172Val
XM_005271008.1:c.752A>T	XP_005271065.1:p.Asp251Val
NM_001363695.1:c.752A>T	NP_001350624.1:p.Asp251Val
NM_000310.4:c.824A>T MANE Select	NP_000301.1:p.Asp275Val
NM_001142604.2:c.515A>T	NP_001136076.1:p.Asp172Val
NM_001363695.2:c.752A>T	NP_001350624.1:p.Asp251Val