Canonical Allele Identifier: CA16040730

Gene: PPT1

Linked Data

• ClinVar Variation Id: 370384
• ClinVar RCV Id: RCV000409057
• dbSNP Id: rs1057516447
• MyVariant Identifiers: chr1:g.40557752G>T (hg19) ; chr1:g.40092080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092080G>T , CM000663.2:g.40092080G>T	GRCh38
NC_000001.10:g.40557752G>T , CM000663.1:g.40557752G>T	GRCh37
NC_000001.9:g.40330339G>T	NCBI36
NG_009192.1:g.10391C>A , LRG_690:g.10391C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*163C>A	ENSP00000361865.5:n.*163C>A
ENST00000433473.8:c.324C>A	ENSP00000394863.4:p.Tyr108Ter
ENST00000439754.6:c.327C>A	ENSP00000403207.2:p.Tyr109Ter
ENST00000449045.7:c.125-2568C>A	ENSP00000392293.2:n.125-2568C>A
ENST00000526547.2:c.607C>A
ENST00000527311.7:c.234+318C>A	ENSP00000436695.3:n.234+318C>A
ENST00000530704.6:c.327C>A	ENSP00000431655.1:p.Tyr109Ter
ENST00000641083.1:c.305C>A
ENST00000641236.1:n.564C>A
ENST00000641319.1:c.327C>A	ENSP00000493128.1:p.Tyr109Ter
ENST00000641471.1:c.414C>A	ENSP00000493146.1:p.Tyr138Ter
ENST00000641548.1:c.*179C>A	ENSP00000492984.1:n.*179C>A
ENST00000641691.1:c.*179C>A	ENSP00000492910.1:n.*179C>A
ENST00000641924.1:c.124+5035C>A	ENSP00000493063.1:n.124+5035C>A
ENST00000642050.2:c.327C>A MANE Select	ENSP00000493153.1:p.Tyr109Ter
ENST00000372779.8:c.414C>A	ENSP00000361865.4:p.Tyr138Ter
ENST00000433473.7:c.327C>A	ENSP00000394863.3:p.Tyr109Ter
ENST00000439754.5:c.12C>A	ENSP00000403207.1:p.Tyr4Ter
ENST00000449045.6:c.125-2568C>A	ENSP00000392293.2:n.125-2568C>A
ENST00000526547.1:c.177C>A	ENSP00000436481.1:p.Tyr59Ter
ENST00000527311.6:c.125-23C>A	ENSP00000436695.2:n.125-23C>A
ENST00000529905.5:c.327C>A	ENSP00000432053.1:p.Tyr109Ter
ENST00000530704.5:c.327C>A	ENSP00000431655.1:p.Tyr109Ter
NM_000310.3:c.327C>A , LRG_690t1:c.327C>A	NP_000301.1:p.Tyr109Ter
NM_001142604.1:c.125-2568C>A	NP_001136076.1:n.125-2568C>A
XM_005271008.1:c.327C>A	XP_005271065.1:p.Tyr109Ter
NM_001363695.1:c.327C>A	NP_001350624.1:p.Tyr109Ter
NM_000310.4:c.327C>A MANE Select	NP_000301.1:p.Tyr109Ter
NM_001142604.2:c.125-2568C>A	NP_001136076.1:n.125-2568C>A
NM_001363695.2:c.327C>A	NP_001350624.1:p.Tyr109Ter