Canonical Allele Identifier: CA263526

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56204
• ClinVar RCV Id: RCV000049615 ; RCV000731854 ; RCV003155060 ; RCV002345360
• dbSNP Id: rs386833655
• ExAC: 1:40546146 C / T
• gnomAD v2: 1-40546146-C-T
• gnomAD v3: 1-40080474-C-T
• gnomAD v4: 1-40080474-C-T
• COSMIC: COSM4007892
• MyVariant Identifiers: chr1:g.40546146C>T (hg19) ; chr1:g.40080474C>T (hg38)
• PubMed: PMID:9664077 ; PMID:9793631 ; PMID:10679943 ; PMID:11440996 ; PMID:17044973 ; PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080474C>T , CM000663.2:g.40080474C>T	GRCh38
NC_000001.10:g.40546146C>T , CM000663.1:g.40546146C>T	GRCh37
NC_000001.9:g.40318733C>T	NCBI36
NG_009192.1:g.21997G>A , LRG_690:g.21997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*386G>A	ENSP00000361865.5:n.*386G>A
ENST00000433473.8:c.547G>A	ENSP00000394863.4:p.Glu183Lys
ENST00000439754.6:c.550G>A	ENSP00000403207.2:p.Glu184Lys
ENST00000449045.7:c.241G>A	ENSP00000392293.2:p.Glu81Lys
ENST00000527311.7:c.319G>A	ENSP00000436695.3:p.Glu107Lys
ENST00000530076.6:c.-108G>A	ENSP00000434007.1:n.-108G>A
ENST00000530704.6:c.*173G>A	ENSP00000431655.1:n.*173G>A
ENST00000641083.1:c.528G>A
ENST00000641236.1:n.787G>A
ENST00000641319.1:c.550G>A	ENSP00000493128.1:p.Glu184Lys
ENST00000641381.1:c.149-3561G>A
ENST00000641471.1:c.637G>A	ENSP00000493146.1:p.Glu213Lys
ENST00000641691.1:c.*402G>A	ENSP00000492910.1:n.*402G>A
ENST00000641924.1:c.138G>A	ENSP00000493063.1:p.Pro46=
ENST00000642050.2:c.550G>A MANE Select	ENSP00000493153.1:p.Glu184Lys
ENST00000372779.8:c.637G>A	ENSP00000361865.4:p.Glu213Lys
ENST00000433473.7:c.550G>A	ENSP00000394863.3:p.Glu184Lys
ENST00000439754.5:c.235G>A	ENSP00000403207.1:p.Glu79Lys
ENST00000449045.6:c.241G>A	ENSP00000392293.2:p.Glu81Lys
ENST00000527311.6:c.325G>A	ENSP00000436695.2:p.Glu109Lys
ENST00000529905.5:c.550G>A	ENSP00000432053.1:p.Glu184Lys
ENST00000530076.5:c.-108G>A	ENSP00000434007.1:n.-108G>A
ENST00000530704.5:c.*173G>A	ENSP00000431655.1:n.*173G>A
NM_000310.3:c.550G>A , LRG_690t1:c.550G>A	NP_000301.1:p.Glu184Lys
NM_001142604.1:c.241G>A	NP_001136076.1:p.Glu81Lys
XM_005271008.1:c.550G>A	XP_005271065.1:p.Glu184Lys
NM_001363695.1:c.550G>A	NP_001350624.1:p.Glu184Lys
NM_000310.4:c.550G>A MANE Select	NP_000301.1:p.Glu184Lys
NM_001142604.2:c.241G>A	NP_001136076.1:p.Glu81Lys
NM_001363695.2:c.550G>A	NP_001350624.1:p.Glu184Lys