Canonical Allele Identifier: CA339845836

Gene: PPT1

Linked Data

• dbSNP Id: rs1301582755
• gnomAD v2: 1-40539853-G-T
• gnomAD v4: 1-40074181-G-T
• MyVariant Identifiers: chr1:g.40539853G>T (hg19) ; chr1:g.40074181G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074181G>T , CM000663.2:g.40074181G>T	GRCh38
NC_000001.10:g.40539853G>T , CM000663.1:g.40539853G>T	GRCh37
NC_000001.9:g.40312440G>T	NCBI36
NG_009192.1:g.28290C>A , LRG_690:g.28290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.798C>A	ENSP00000394863.4:p.Asp266Glu
ENST00000439754.6:c.729C>A	ENSP00000403207.2:p.Asp243Glu
ENST00000449045.7:c.492C>A	ENSP00000392293.2:p.Asp164Glu
ENST00000527311.7:c.570C>A	ENSP00000436695.3:p.Asp190Glu
ENST00000530076.6:c.144C>A	ENSP00000434007.1:p.Asp48Glu
ENST00000530704.6:c.*424C>A	ENSP00000431655.1:n.*424C>A
ENST00000641083.1:c.891C>A
ENST00000641236.1:n.1038C>A
ENST00000641319.1:c.*11C>A	ENSP00000493128.1:n.*11C>A
ENST00000641381.1:c.223C>A
ENST00000641471.1:c.888C>A	ENSP00000493146.1:p.Asp296Glu
ENST00000641691.1:c.*653C>A	ENSP00000492910.1:n.*653C>A
ENST00000641924.1:c.*230C>A	ENSP00000493063.1:n.*230C>A
ENST00000642050.2:c.801C>A MANE Select	ENSP00000493153.1:p.Asp267Glu
ENST00000372775.2:n.198C>A
ENST00000433473.7:c.801C>A	ENSP00000394863.3:p.Asp267Glu
ENST00000439754.5:c.414C>A	ENSP00000403207.1:p.Asp138Glu
ENST00000449045.6:c.492C>A	ENSP00000392293.2:p.Asp164Glu
ENST00000527311.6:c.576C>A	ENSP00000436695.2:p.Asp192Glu
ENST00000529905.5:c.801C>A	ENSP00000432053.1:p.Asp267Glu
ENST00000530076.5:c.144C>A	ENSP00000434007.1:p.Asp48Glu
ENST00000530704.5:c.*424C>A	ENSP00000431655.1:n.*424C>A
NM_000310.3:c.801C>A , LRG_690t1:c.801C>A	NP_000301.1:p.Asp267Glu
NM_001142604.1:c.492C>A	NP_001136076.1:p.Asp164Glu
XM_005271008.1:c.729C>A	XP_005271065.1:p.Asp243Glu
NM_001363695.1:c.729C>A	NP_001350624.1:p.Asp243Glu
NM_000310.4:c.801C>A MANE Select	NP_000301.1:p.Asp267Glu
NM_001142604.2:c.492C>A	NP_001136076.1:p.Asp164Glu
NM_001363695.2:c.729C>A	NP_001350624.1:p.Asp243Glu