Canonical Allele Identifier: CA263556

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56219
• ClinVar RCV Id: RCV000049630 ; RCV001753468
• dbSNP Id: rs386833670
• ExAC: 1:40539766 C / T
• gnomAD v2: 1-40539766-C-T
• MyVariant Identifiers: chr1:g.40539766C>T (hg19) ; chr1:g.40074094C>T (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074094C>T , CM000663.2:g.40074094C>T	GRCh38
NC_000001.10:g.40539766C>T , CM000663.1:g.40539766C>T	GRCh37
NC_000001.9:g.40312353C>T	NCBI36
NG_009192.1:g.28377G>A , LRG_690:g.28377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.885G>A	ENSP00000394863.4:p.Trp295Ter
ENST00000439754.6:c.816G>A	ENSP00000403207.2:p.Trp272Ter
ENST00000449045.7:c.579G>A	ENSP00000392293.2:p.Trp193Ter
ENST00000530076.6:c.231G>A	ENSP00000434007.1:p.Trp77Ter
ENST00000530704.6:c.*511G>A	ENSP00000431655.1:n.*511G>A
ENST00000641083.1:c.978G>A
ENST00000641236.1:n.1125G>A
ENST00000641319.1:c.*98G>A	ENSP00000493128.1:n.*98G>A
ENST00000641381.1:c.310G>A
ENST00000641471.1:c.975G>A	ENSP00000493146.1:p.Trp325Ter
ENST00000641691.1:c.*740G>A	ENSP00000492910.1:n.*740G>A
ENST00000641924.1:c.*317G>A	ENSP00000493063.1:n.*317G>A
ENST00000642050.2:c.888G>A MANE Select	ENSP00000493153.1:p.Trp296Ter
ENST00000372775.2:n.285G>A
ENST00000433473.7:c.888G>A	ENSP00000394863.3:p.Trp296Ter
ENST00000439754.5:c.501G>A	ENSP00000403207.1:p.Trp167Ter
ENST00000449045.6:c.579G>A	ENSP00000392293.2:p.Trp193Ter
ENST00000529905.5:c.888G>A	ENSP00000432053.1:p.Trp296Ter
ENST00000530076.5:c.231G>A	ENSP00000434007.1:p.Trp77Ter
ENST00000530704.5:c.*511G>A	ENSP00000431655.1:n.*511G>A
NM_000310.3:c.888G>A , LRG_690t1:c.888G>A	NP_000301.1:p.Trp296Ter
NM_001142604.1:c.579G>A	NP_001136076.1:p.Trp193Ter
XM_005271008.1:c.816G>A	XP_005271065.1:p.Trp272Ter
NM_001363695.1:c.816G>A	NP_001350624.1:p.Trp272Ter
NM_000310.4:c.888G>A MANE Select	NP_000301.1:p.Trp296Ter
NM_001142604.2:c.579G>A	NP_001136076.1:p.Trp193Ter
NM_001363695.2:c.816G>A	NP_001350624.1:p.Trp272Ter