Canonical Allele Identifier: CA339848794

Gene: PPT1

Linked Data

• ClinVar Variation Id: 557200
• ClinVar RCV Id: RCV000673308
• dbSNP Id: rs1553167415
• COSMIC: COSM5604581
• MyVariant Identifiers: chr1:g.40557000C>T (hg19) ; chr1:g.40091328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091328C>T , CM000663.2:g.40091328C>T	GRCh38
NC_000001.10:g.40557000C>T , CM000663.1:g.40557000C>T	GRCh37
NC_000001.9:g.40329587C>T	NCBI36
NG_009192.1:g.11143G>A , LRG_690:g.11143G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+1G>A	ENSP00000361865.5:n.*269+1G>A
ENST00000433473.8:c.430+1G>A	ENSP00000394863.4:n.430+1G>A
ENST00000439754.6:c.433+1G>A	ENSP00000403207.2:n.433+1G>A
ENST00000449045.7:c.125-1816G>A	ENSP00000392293.2:n.125-1816G>A
ENST00000526547.2:c.713+1G>A
ENST00000527311.7:c.305+1G>A	ENSP00000436695.3:n.305+1G>A
ENST00000530704.6:c.433+1G>A	ENSP00000431655.1:n.433+1G>A
ENST00000641083.1:c.411+1G>A
ENST00000641236.1:n.670+1G>A
ENST00000641319.1:c.433+1G>A	ENSP00000493128.1:n.433+1G>A
ENST00000641381.1:c.45+1G>A
ENST00000641471.1:c.520+1G>A	ENSP00000493146.1:n.520+1G>A
ENST00000641548.1:c.*285+1G>A	ENSP00000492984.1:n.*285+1G>A
ENST00000641691.1:c.*285+1G>A	ENSP00000492910.1:n.*285+1G>A
ENST00000641924.1:c.124+5787G>A	ENSP00000493063.1:n.124+5787G>A
ENST00000642050.2:c.433+1G>A MANE Select	ENSP00000493153.1:n.433+1G>A
ENST00000372779.8:c.520+1G>A	ENSP00000361865.4:n.520+1G>A
ENST00000433473.7:c.433+1G>A	ENSP00000394863.3:n.433+1G>A
ENST00000439754.5:c.118+1G>A	ENSP00000403207.1:n.118+1G>A
ENST00000449045.6:c.125-1816G>A	ENSP00000392293.2:n.125-1816G>A
ENST00000526547.1:c.283+1G>A	ENSP00000436481.1:n.283+1G>A
ENST00000527311.6:c.208+1G>A	ENSP00000436695.2:n.208+1G>A
ENST00000529905.5:c.433+1G>A	ENSP00000432053.1:n.433+1G>A
ENST00000530704.5:c.433+1G>A	ENSP00000431655.1:n.433+1G>A
NM_000310.3:c.433+1G>A , LRG_690t1:c.433+1G>A	NP_000301.1:n.433+1G>A
NM_001142604.1:c.125-1816G>A	NP_001136076.1:n.125-1816G>A
XM_005271008.1:c.433+1G>A	XP_005271065.1:n.433+1G>A
NM_001363695.1:c.433+1G>A	NP_001350624.1:n.433+1G>A
NM_000310.4:c.433+1G>A MANE Select	NP_000301.1:n.433+1G>A
NM_001142604.2:c.125-1816G>A	NP_001136076.1:n.125-1816G>A
NM_001363695.2:c.433+1G>A	NP_001350624.1:n.433+1G>A