Canonical Allele Identifier: CA263493

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56188
• ClinVar RCV Id: RCV003230386
• dbSNP Id: rs386833640
• ExAC: 1:40557792 C / T
• gnomAD v2: 1-40557792-C-T
• gnomAD v3: 1-40092120-C-T
• gnomAD v4: 1-40092120-C-T
• MyVariant Identifiers: chr1:g.40557792C>T (hg19) ; chr1:g.40092120C>T (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092120C>T , CM000663.2:g.40092120C>T	GRCh38
NC_000001.10:g.40557792C>T , CM000663.1:g.40557792C>T	GRCh37
NC_000001.9:g.40330379C>T	NCBI36
NG_009192.1:g.10351G>A , LRG_690:g.10351G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*123G>A	ENSP00000361865.5:n.*123G>A
ENST00000433473.8:c.284G>A	ENSP00000394863.4:p.Cys95Tyr
ENST00000439754.6:c.287G>A	ENSP00000403207.2:p.Cys96Tyr
ENST00000449045.7:c.125-2608G>A	ENSP00000392293.2:n.125-2608G>A
ENST00000526547.2:c.567G>A
ENST00000527311.7:c.234+278G>A	ENSP00000436695.3:n.234+278G>A
ENST00000530704.6:c.287G>A	ENSP00000431655.1:p.Cys96Tyr
ENST00000641083.1:c.265G>A
ENST00000641236.1:n.524G>A
ENST00000641319.1:c.287G>A	ENSP00000493128.1:p.Cys96Tyr
ENST00000641471.1:c.374G>A	ENSP00000493146.1:p.Cys125Tyr
ENST00000641548.1:c.*139G>A	ENSP00000492984.1:n.*139G>A
ENST00000641691.1:c.*139G>A	ENSP00000492910.1:n.*139G>A
ENST00000641924.1:c.124+4995G>A	ENSP00000493063.1:n.124+4995G>A
ENST00000642050.2:c.287G>A MANE Select	ENSP00000493153.1:p.Cys96Tyr
ENST00000372779.8:c.374G>A	ENSP00000361865.4:p.Cys125Tyr
ENST00000433473.7:c.287G>A	ENSP00000394863.3:p.Cys96Tyr
ENST00000449045.6:c.125-2608G>A	ENSP00000392293.2:n.125-2608G>A
ENST00000526547.1:c.137G>A	ENSP00000436481.1:p.Cys46Tyr
ENST00000527311.6:c.125-63G>A	ENSP00000436695.2:n.125-63G>A
ENST00000529905.5:c.287G>A	ENSP00000432053.1:p.Cys96Tyr
ENST00000530704.5:c.287G>A	ENSP00000431655.1:p.Cys96Tyr
NM_000310.3:c.287G>A , LRG_690t1:c.287G>A	NP_000301.1:p.Cys96Tyr
NM_001142604.1:c.125-2608G>A	NP_001136076.1:n.125-2608G>A
XM_005271008.1:c.287G>A	XP_005271065.1:p.Cys96Tyr
NM_001363695.1:c.287G>A	NP_001350624.1:p.Cys96Tyr
NM_000310.4:c.287G>A MANE Select	NP_000301.1:p.Cys96Tyr
NM_001142604.2:c.125-2608G>A	NP_001136076.1:n.125-2608G>A
NM_001363695.2:c.287G>A	NP_001350624.1:p.Cys96Tyr