Canonical Allele Identifier: CA339845682

Gene: PPT1

Linked Data

• ClinVar Variation Id: 972558
• ClinVar RCV Id: RCV001248619
• dbSNP Id: rs1243793048
• MyVariant Identifiers: chr1:g.40539822C>T (hg19) ; chr1:g.40074150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074150C>T , CM000663.2:g.40074150C>T	GRCh38
NC_000001.10:g.40539822C>T , CM000663.1:g.40539822C>T	GRCh37
NC_000001.9:g.40312409C>T	NCBI36
NG_009192.1:g.28321G>A , LRG_690:g.28321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.829G>A	ENSP00000394863.4:p.Gly277Arg
ENST00000439754.6:c.760G>A	ENSP00000403207.2:p.Gly254Arg
ENST00000449045.7:c.523G>A	ENSP00000392293.2:p.Gly175Arg
ENST00000527311.7:c.601G>A	ENSP00000436695.3:p.Gly201Arg
ENST00000530076.6:c.175G>A	ENSP00000434007.1:p.Gly59Arg
ENST00000530704.6:c.*455G>A	ENSP00000431655.1:n.*455G>A
ENST00000641083.1:c.922G>A
ENST00000641236.1:n.1069G>A
ENST00000641319.1:c.*42G>A	ENSP00000493128.1:n.*42G>A
ENST00000641381.1:c.254G>A
ENST00000641471.1:c.919G>A	ENSP00000493146.1:p.Gly307Arg
ENST00000641691.1:c.*684G>A	ENSP00000492910.1:n.*684G>A
ENST00000641924.1:c.*261G>A	ENSP00000493063.1:n.*261G>A
ENST00000642050.2:c.832G>A MANE Select	ENSP00000493153.1:p.Gly278Arg
ENST00000372775.2:n.229G>A
ENST00000433473.7:c.832G>A	ENSP00000394863.3:p.Gly278Arg
ENST00000439754.5:c.445G>A	ENSP00000403207.1:p.Gly149Arg
ENST00000449045.6:c.523G>A	ENSP00000392293.2:p.Gly175Arg
ENST00000527311.6:c.607G>A	ENSP00000436695.2:p.Gly203Arg
ENST00000529905.5:c.832G>A	ENSP00000432053.1:p.Gly278Arg
ENST00000530076.5:c.175G>A	ENSP00000434007.1:p.Gly59Arg
ENST00000530704.5:c.*455G>A	ENSP00000431655.1:n.*455G>A
NM_000310.3:c.832G>A , LRG_690t1:c.832G>A	NP_000301.1:p.Gly278Arg
NM_001142604.1:c.523G>A	NP_001136076.1:p.Gly175Arg
XM_005271008.1:c.760G>A	XP_005271065.1:p.Gly254Arg
NM_001363695.1:c.760G>A	NP_001350624.1:p.Gly254Arg
NM_000310.4:c.832G>A MANE Select	NP_000301.1:p.Gly278Arg
NM_001142604.2:c.523G>A	NP_001136076.1:p.Gly175Arg
NM_001363695.2:c.760G>A	NP_001350624.1:p.Gly254Arg