Canonical Allele Identifier: CA339845340

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1030730
• ClinVar RCV Id: RCV001332357
• dbSNP Id: rs1648432406
• MyVariant Identifiers: chr1:g.40539752A>T (hg19) ; chr1:g.40074080A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074080A>T , CM000663.2:g.40074080A>T	GRCh38
NC_000001.10:g.40539752A>T , CM000663.1:g.40539752A>T	GRCh37
NC_000001.9:g.40312339A>T	NCBI36
NG_009192.1:g.28391T>A , LRG_690:g.28391T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.899T>A	ENSP00000394863.4:p.Ile300Asn
ENST00000439754.6:c.830T>A	ENSP00000403207.2:p.Ile277Asn
ENST00000449045.7:c.593T>A	ENSP00000392293.2:p.Ile198Asn
ENST00000530076.6:c.245T>A	ENSP00000434007.1:p.Ile82Asn
ENST00000530704.6:c.*525T>A	ENSP00000431655.1:n.*525T>A
ENST00000641083.1:c.992T>A
ENST00000641236.1:n.1139T>A
ENST00000641319.1:c.*112T>A	ENSP00000493128.1:n.*112T>A
ENST00000641381.1:c.324T>A
ENST00000641471.1:c.989T>A	ENSP00000493146.1:p.Ile330Asn
ENST00000641691.1:c.*754T>A	ENSP00000492910.1:n.*754T>A
ENST00000641924.1:c.*331T>A	ENSP00000493063.1:n.*331T>A
ENST00000642050.2:c.902T>A MANE Select	ENSP00000493153.1:p.Ile301Asn
ENST00000372775.2:n.299T>A
ENST00000433473.7:c.902T>A	ENSP00000394863.3:p.Ile301Asn
ENST00000439754.5:c.515T>A	ENSP00000403207.1:p.Ile172Asn
ENST00000449045.6:c.593T>A	ENSP00000392293.2:p.Ile198Asn
ENST00000529905.5:c.902T>A	ENSP00000432053.1:p.Ile301Asn
ENST00000530076.5:c.245T>A	ENSP00000434007.1:p.Ile82Asn
ENST00000530704.5:c.*525T>A	ENSP00000431655.1:n.*525T>A
NM_000310.3:c.902T>A , LRG_690t1:c.902T>A	NP_000301.1:p.Ile301Asn
NM_001142604.1:c.593T>A	NP_001136076.1:p.Ile198Asn
XM_005271008.1:c.830T>A	XP_005271065.1:p.Ile277Asn
NM_001363695.1:c.830T>A	NP_001350624.1:p.Ile277Asn
NM_000310.4:c.902T>A MANE Select	NP_000301.1:p.Ile301Asn
NM_001142604.2:c.593T>A	NP_001136076.1:p.Ile198Asn
NM_001363695.2:c.830T>A	NP_001350624.1:p.Ile277Asn