Canonical Allele Identifier: CA339848975

Gene: PPT1

Linked Data

• dbSNP Id: rs1649593285
• gnomAD v3: 1-40092055-C-A
• gnomAD v4: 1-40092055-C-A
• MyVariant Identifiers: chr1:g.40557727C>A (hg19) ; chr1:g.40092055C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092055C>A , CM000663.2:g.40092055C>A	GRCh38
NC_000001.10:g.40557727C>A , CM000663.1:g.40557727C>A	GRCh37
NC_000001.9:g.40330314C>A	NCBI36
NG_009192.1:g.10416G>T , LRG_690:g.10416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*188G>T	ENSP00000361865.5:n.*188G>T
ENST00000433473.8:c.349G>T	ENSP00000394863.4:p.Gly117Cys
ENST00000439754.6:c.352G>T	ENSP00000403207.2:p.Gly118Cys
ENST00000449045.7:c.125-2543G>T	ENSP00000392293.2:n.125-2543G>T
ENST00000526547.2:c.632G>T
ENST00000527311.7:c.234+343G>T	ENSP00000436695.3:n.234+343G>T
ENST00000530704.6:c.352G>T	ENSP00000431655.1:p.Gly118Cys
ENST00000641083.1:c.330G>T
ENST00000641236.1:n.589G>T
ENST00000641319.1:c.352G>T	ENSP00000493128.1:p.Gly118Cys
ENST00000641471.1:c.439G>T	ENSP00000493146.1:p.Gly147Cys
ENST00000641548.1:c.*204G>T	ENSP00000492984.1:n.*204G>T
ENST00000641691.1:c.*204G>T	ENSP00000492910.1:n.*204G>T
ENST00000641924.1:c.124+5060G>T	ENSP00000493063.1:n.124+5060G>T
ENST00000642050.2:c.352G>T MANE Select	ENSP00000493153.1:p.Gly118Cys
ENST00000372779.8:c.439G>T	ENSP00000361865.4:p.Gly147Cys
ENST00000433473.7:c.352G>T	ENSP00000394863.3:p.Gly118Cys
ENST00000439754.5:c.37G>T	ENSP00000403207.1:p.Gly13Cys
ENST00000449045.6:c.125-2543G>T	ENSP00000392293.2:n.125-2543G>T
ENST00000526547.1:c.202G>T	ENSP00000436481.1:p.Gly68Cys
ENST00000527311.6:c.127G>T	ENSP00000436695.2:p.Gly43Cys
ENST00000529905.5:c.352G>T	ENSP00000432053.1:p.Gly118Cys
ENST00000530704.5:c.352G>T	ENSP00000431655.1:p.Gly118Cys
NM_000310.3:c.352G>T , LRG_690t1:c.352G>T	NP_000301.1:p.Gly118Cys
NM_001142604.1:c.125-2543G>T	NP_001136076.1:n.125-2543G>T
XM_005271008.1:c.352G>T	XP_005271065.1:p.Gly118Cys
NM_001363695.1:c.352G>T	NP_001350624.1:p.Gly118Cys
NM_000310.4:c.352G>T MANE Select	NP_000301.1:p.Gly118Cys
NM_001142604.2:c.125-2543G>T	NP_001136076.1:n.125-2543G>T
NM_001363695.2:c.352G>T	NP_001350624.1:p.Gly118Cys