Canonical Allele Identifier: CA10603917

Gene: PPT1

Linked Data

• ClinVar Variation Id: 281572
• ClinVar RCV Id: RCV000261957 ; RCV001201289 ; RCV001828181
• dbSNP Id: rs369186379
• gnomAD v3: 1-40091329-C-T
• gnomAD v4: 1-40091329-C-T
• COSMIC: COSM4007894
• MyVariant Identifiers: chr1:g.40557001C>T (hg19) ; chr1:g.40091329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091329C>T , CM000663.2:g.40091329C>T	GRCh38
NC_000001.10:g.40557001C>T , CM000663.1:g.40557001C>T	GRCh37
NC_000001.9:g.40329588C>T	NCBI36
NG_009192.1:g.11142G>A , LRG_690:g.11142G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269G>A	ENSP00000361865.5:n.*269G>A
ENST00000433473.8:c.430G>A	ENSP00000394863.4:p.Gly144Ser
ENST00000439754.6:c.433G>A	ENSP00000403207.2:p.Gly145Ser
ENST00000449045.7:c.125-1817G>A	ENSP00000392293.2:n.125-1817G>A
ENST00000526547.2:c.713G>A
ENST00000527311.7:c.305G>A	ENSP00000436695.3:p.Ser102Asn
ENST00000530704.6:c.433G>A	ENSP00000431655.1:p.Val145Met
ENST00000641083.1:c.411G>A
ENST00000641236.1:n.670G>A
ENST00000641319.1:c.433G>A	ENSP00000493128.1:p.Gly145Ser
ENST00000641381.1:c.45G>A
ENST00000641471.1:c.520G>A	ENSP00000493146.1:p.Gly174Ser
ENST00000641548.1:c.*285G>A	ENSP00000492984.1:n.*285G>A
ENST00000641691.1:c.*285G>A	ENSP00000492910.1:n.*285G>A
ENST00000641924.1:c.124+5786G>A	ENSP00000493063.1:n.124+5786G>A
ENST00000642050.2:c.433G>A MANE Select	ENSP00000493153.1:p.Gly145Ser
ENST00000372779.8:c.520G>A	ENSP00000361865.4:p.Gly174Ser
ENST00000433473.7:c.433G>A	ENSP00000394863.3:p.Gly145Ser
ENST00000439754.5:c.118G>A	ENSP00000403207.1:p.Gly40Ser
ENST00000449045.6:c.125-1817G>A	ENSP00000392293.2:n.125-1817G>A
ENST00000526547.1:c.283G>A	ENSP00000436481.1:p.Gly95Ser
ENST00000527311.6:c.208G>A	ENSP00000436695.2:p.Gly70Ser
ENST00000529905.5:c.433G>A	ENSP00000432053.1:p.Gly145Ser
ENST00000530704.5:c.433G>A	ENSP00000431655.1:p.Val145Met
NM_000310.3:c.433G>A , LRG_690t1:c.433G>A	NP_000301.1:p.Gly145Ser
NM_001142604.1:c.125-1817G>A	NP_001136076.1:n.125-1817G>A
XM_005271008.1:c.433G>A	XP_005271065.1:p.Gly145Ser
NM_001363695.1:c.433G>A	NP_001350624.1:p.Gly145Ser
NM_000310.4:c.433G>A MANE Select	NP_000301.1:p.Gly145Ser
NM_001142604.2:c.125-1817G>A	NP_001136076.1:n.125-1817G>A
NM_001363695.2:c.433G>A	NP_001350624.1:p.Gly145Ser