Canonical Allele Identifier: CA916082014

Gene: PPT1

Linked Data

• ClinVar Variation Id: 856480
• ClinVar RCV Id: RCV001061953
• dbSNP Id: rs1649597261

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092117_40092118del , CM000663.2:g.40092117_40092118del	GRCh38
NC_000001.10:g.40557789_40557790del , CM000663.1:g.40557789_40557790del	GRCh37
NC_000001.9:g.40330376_40330377del	NCBI36
NG_009192.1:g.10353_10354del , LRG_690:g.10353_10354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*125_*126del	ENSP00000361865.5:n.*125_*126del
ENST00000433473.8:c.286_287del	ENSP00000394863.4:p.Gln96GlyfsTer4
ENST00000439754.6:c.289_290del	ENSP00000403207.2:p.Gln97GlyfsTer4
ENST00000449045.7:c.125-2606_125-2605del	ENSP00000392293.2:n.125-2606_125-2605del
ENST00000526547.2:c.569_570del
ENST00000527311.7:c.234+280_234+281del	ENSP00000436695.3:n.234+280_234+281del
ENST00000530704.6:c.289_290del	ENSP00000431655.1:p.Gln97GlyfsTer4
ENST00000641083.1:c.267_268del
ENST00000641236.1:n.526_527del
ENST00000641319.1:c.289_290del	ENSP00000493128.1:p.Gln97GlyfsTer4
ENST00000641471.1:c.376_377del	ENSP00000493146.1:p.Gln126GlyfsTer4
ENST00000641548.1:c.*141_*142del	ENSP00000492984.1:n.*141_*142del
ENST00000641691.1:c.*141_*142del	ENSP00000492910.1:n.*141_*142del
ENST00000641924.1:c.124+4997_124+4998del	ENSP00000493063.1:n.124+4997_124+4998del
ENST00000642050.2:c.289_290del MANE Select	ENSP00000493153.1:p.Gln97GlyfsTer4
ENST00000372779.8:c.376_377del	ENSP00000361865.4:p.Gln126GlyfsTer4
ENST00000433473.7:c.289_290del	ENSP00000394863.3:p.Gln97GlyfsTer4
ENST00000449045.6:c.125-2606_125-2605del	ENSP00000392293.2:n.125-2606_125-2605del
ENST00000526547.1:c.139_140del	ENSP00000436481.1:p.Gln47GlyfsTer4
ENST00000527311.6:c.125-61_125-60del	ENSP00000436695.2:n.125-61_125-60del
ENST00000529905.5:c.289_290del	ENSP00000432053.1:p.Gln97GlyfsTer4
ENST00000530704.5:c.289_290del	ENSP00000431655.1:p.Gln97GlyfsTer4
NM_000310.3:c.289_290del , LRG_690t1:c.289_290del	NP_000301.1:p.Gln97GlyfsTer4
NM_001142604.1:c.125-2606_125-2605del	NP_001136076.1:n.125-2606_125-2605del
XM_005271008.1:c.289_290del	XP_005271065.1:p.Gln97GlyfsTer4
NM_001363695.1:c.289_290del	NP_001350624.1:p.Gln97GlyfsTer4
NM_000310.4:c.289_290del MANE Select	NP_000301.1:p.Gln97GlyfsTer4
NM_001142604.2:c.125-2606_125-2605del	NP_001136076.1:n.125-2606_125-2605del
NM_001363695.2:c.289_290del	NP_001350624.1:p.Gln97GlyfsTer4