Canonical Allele Identifier: CA263518

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56199
• ClinVar RCV Id: RCV000049610 ; RCV000584560 ; RCV001814032
• dbSNP Id: rs386833651
• MyVariant Identifiers: chr1:g.40555081C>T (hg19) ; chr1:g.40089409C>T (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40089409C>T , CM000663.2:g.40089409C>T	GRCh38
NC_000001.10:g.40555081C>T , CM000663.1:g.40555081C>T	GRCh37
NC_000001.9:g.40327668C>T	NCBI36
NG_009192.1:g.13062G>A , LRG_690:g.13062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*372+1G>A	ENSP00000361865.5:n.*372+1G>A
ENST00000433473.8:c.533+1G>A	ENSP00000394863.4:n.533+1G>A
ENST00000439754.6:c.536+1G>A	ENSP00000403207.2:n.536+1G>A
ENST00000449045.7:c.227+1G>A	ENSP00000392293.2:n.227+1G>A
ENST00000527311.7:c.305+1920G>A	ENSP00000436695.3:n.305+1920G>A
ENST00000530704.6:c.*159+1G>A	ENSP00000431655.1:n.*159+1G>A
ENST00000641083.1:c.514+1G>A
ENST00000641236.1:n.773+1G>A
ENST00000641319.1:c.536+1G>A	ENSP00000493128.1:n.536+1G>A
ENST00000641381.1:c.148+1G>A
ENST00000641471.1:c.623+1G>A	ENSP00000493146.1:n.623+1G>A
ENST00000641691.1:c.*388+1G>A	ENSP00000492910.1:n.*388+1G>A
ENST00000641924.1:c.124+7706G>A	ENSP00000493063.1:n.124+7706G>A
ENST00000642050.2:c.536+1G>A MANE Select	ENSP00000493153.1:n.536+1G>A
ENST00000372779.8:c.623+1G>A	ENSP00000361865.4:n.623+1G>A
ENST00000433473.7:c.536+1G>A	ENSP00000394863.3:n.536+1G>A
ENST00000439754.5:c.221+1G>A	ENSP00000403207.1:n.221+1G>A
ENST00000449045.6:c.227+1G>A	ENSP00000392293.2:n.227+1G>A
ENST00000527311.6:c.311+1G>A	ENSP00000436695.2:n.311+1G>A
ENST00000529905.5:c.536+1G>A	ENSP00000432053.1:n.536+1G>A
ENST00000530704.5:c.*159+1G>A	ENSP00000431655.1:n.*159+1G>A
NM_000310.3:c.536+1G>A , LRG_690t1:c.536+1G>A	NP_000301.1:n.536+1G>A
NM_001142604.1:c.227+1G>A	NP_001136076.1:n.227+1G>A
XM_005271008.1:c.536+1G>A	XP_005271065.1:n.536+1G>A
NM_001363695.1:c.536+1G>A	NP_001350624.1:n.536+1G>A
NM_000310.4:c.536+1G>A MANE Select	NP_000301.1:n.536+1G>A
NM_001142604.2:c.227+1G>A	NP_001136076.1:n.227+1G>A
NM_001363695.2:c.536+1G>A	NP_001350624.1:n.536+1G>A