Canonical Allele Identifier: CA1164252367

Gene: PPT1

Linked Data

• dbSNP Id: rs1649601428

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092180del , CM000663.2:g.40092180del	GRCh38
NC_000001.10:g.40557852del , CM000663.1:g.40557852del	GRCh37
NC_000001.9:g.40330439del	NCBI36
NG_009192.1:g.10296del , LRG_690:g.10296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-3del	ENSP00000361865.5:n.*71-3del
ENST00000433473.8:c.232-3del	ENSP00000394863.4:n.232-3del
ENST00000439754.6:c.235-3del	ENSP00000403207.2:n.235-3del
ENST00000449045.7:c.125-2663del	ENSP00000392293.2:n.125-2663del
ENST00000526547.2:c.515-3del
ENST00000527311.7:c.234+223del	ENSP00000436695.3:n.234+223del
ENST00000530704.6:c.235-3del	ENSP00000431655.1:n.235-3del
ENST00000641083.1:c.213-3del
ENST00000641236.1:n.469del
ENST00000641319.1:c.235-3del	ENSP00000493128.1:n.235-3del
ENST00000641471.1:c.322-3del	ENSP00000493146.1:n.322-3del
ENST00000641548.1:c.*87-3del	ENSP00000492984.1:n.*87-3del
ENST00000641691.1:c.*87-3del	ENSP00000492910.1:n.*87-3del
ENST00000641924.1:c.124+4940del	ENSP00000493063.1:n.124+4940del
ENST00000642050.2:c.235-3del MANE Select	ENSP00000493153.1:n.235-3del
ENST00000372779.8:c.322-3del	ENSP00000361865.4:n.322-3del
ENST00000433473.7:c.235-3del	ENSP00000394863.3:n.235-3del
ENST00000449045.6:c.125-2663del	ENSP00000392293.2:n.125-2663del
ENST00000526547.1:c.85-3del	ENSP00000436481.1:n.85-3del
ENST00000527311.6:c.125-118del	ENSP00000436695.2:n.125-118del
ENST00000529905.5:c.235-3del	ENSP00000432053.1:n.235-3del
ENST00000530704.5:c.235-3del	ENSP00000431655.1:n.235-3del
NM_000310.3:c.235-3del , LRG_690t1:c.235-3del	NP_000301.1:n.235-3del
NM_001142604.1:c.125-2663del	NP_001136076.1:n.125-2663del
XM_005271008.1:c.235-3del	XP_005271065.1:n.235-3del
NM_001363695.1:c.235-3del	NP_001350624.1:n.235-3del
NM_000310.4:c.235-3del MANE Select	NP_000301.1:n.235-3del
NM_001142604.2:c.125-2663del	NP_001136076.1:n.125-2663del
NM_001363695.2:c.235-3del	NP_001350624.1:n.235-3del