Canonical Allele Identifier: CA316946

Gene: PPT1

Linked Data

• ClinVar Variation Id: 206649
• ClinVar RCV Id: RCV000641282
• dbSNP Id: rs376715840
• ExAC: 1:40546110 G / A
• gnomAD v2: 1-40546110-G-A
• gnomAD v3: 1-40080438-G-A
• gnomAD v4: 1-40080438-G-A
• MyVariant Identifiers: chr1:g.40546110G>A (hg19) ; chr1:g.40080438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080438G>A , CM000663.2:g.40080438G>A	GRCh38
NC_000001.10:g.40546110G>A , CM000663.1:g.40546110G>A	GRCh37
NC_000001.9:g.40318697G>A	NCBI36
NG_009192.1:g.22033C>T , LRG_690:g.22033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.583C>T	ENSP00000394863.4:p.Arg195Cys
ENST00000439754.6:c.586C>T	ENSP00000403207.2:p.Arg196Cys
ENST00000449045.7:c.277C>T	ENSP00000392293.2:p.Arg93Cys
ENST00000527311.7:c.355C>T	ENSP00000436695.3:p.Arg119Cys
ENST00000530076.6:c.-72C>T	ENSP00000434007.1:n.-72C>T
ENST00000530704.6:c.*209C>T	ENSP00000431655.1:n.*209C>T
ENST00000641083.1:c.564C>T
ENST00000641236.1:n.823C>T
ENST00000641319.1:c.586C>T	ENSP00000493128.1:p.Arg196Cys
ENST00000641381.1:c.149-3525C>T
ENST00000641471.1:c.673C>T	ENSP00000493146.1:p.Arg225Cys
ENST00000641691.1:c.*438C>T	ENSP00000492910.1:n.*438C>T
ENST00000641924.1:c.*15C>T	ENSP00000493063.1:n.*15C>T
ENST00000642050.2:c.586C>T MANE Select	ENSP00000493153.1:p.Arg196Cys
ENST00000372779.8:c.673C>T	ENSP00000361865.4:p.Arg225Cys
ENST00000433473.7:c.586C>T	ENSP00000394863.3:p.Arg196Cys
ENST00000439754.5:c.271C>T	ENSP00000403207.1:p.Arg91Cys
ENST00000449045.6:c.277C>T	ENSP00000392293.2:p.Arg93Cys
ENST00000527311.6:c.361C>T	ENSP00000436695.2:p.Arg121Cys
ENST00000529905.5:c.586C>T	ENSP00000432053.1:p.Arg196Cys
ENST00000530076.5:c.-72C>T	ENSP00000434007.1:n.-72C>T
ENST00000530704.5:c.*209C>T	ENSP00000431655.1:n.*209C>T
NM_000310.3:c.586C>T , LRG_690t1:c.586C>T	NP_000301.1:p.Arg196Cys
NM_001142604.1:c.277C>T	NP_001136076.1:p.Arg93Cys
XM_005271008.1:c.586C>T	XP_005271065.1:p.Arg196Cys
NM_001363695.1:c.586C>T	NP_001350624.1:p.Arg196Cys
NM_000310.4:c.586C>T MANE Select	NP_000301.1:p.Arg196Cys
NM_001142604.2:c.277C>T	NP_001136076.1:p.Arg93Cys
NM_001363695.2:c.586C>T	NP_001350624.1:p.Arg196Cys