Canonical Allele Identifier: CA21015941

Gene: PPT1

Linked Data

• dbSNP Id: rs892148809
• gnomAD v3: 1-40091487-CTG-C
• gnomAD v4: 1-40091487-CTG-C
• MyVariant Identifiers: chr1:g.40557160_40557161del (hg19) ; chr1:g.40091488_40091489del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091490_40091491del , CM000663.2:g.40091490_40091491del	GRCh38
NC_000001.10:g.40557162_40557163del , CM000663.1:g.40557162_40557163del	GRCh37
NC_000001.9:g.40329749_40329750del	NCBI36
NG_009192.1:g.10982_10983del , LRG_690:g.10982_10983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-90_*199-89del	ENSP00000361865.5:n.*199-90_*199-89del
ENST00000433473.8:c.360-90_360-89del	ENSP00000394863.4:n.360-90_360-89del
ENST00000439754.6:c.363-90_363-89del	ENSP00000403207.2:n.363-90_363-89del
ENST00000449045.7:c.125-1977_125-1976del	ENSP00000392293.2:n.125-1977_125-1976del
ENST00000526547.2:c.643-90_643-89del
ENST00000527311.7:c.235-90_235-89del	ENSP00000436695.3:n.235-90_235-89del
ENST00000530704.6:c.363-90_363-89del	ENSP00000431655.1:n.363-90_363-89del
ENST00000641083.1:c.341-90_341-89del
ENST00000641236.1:n.600-90_600-89del
ENST00000641319.1:c.363-90_363-89del	ENSP00000493128.1:n.363-90_363-89del
ENST00000641471.1:c.450-90_450-89del	ENSP00000493146.1:n.450-90_450-89del
ENST00000641548.1:c.*215-90_*215-89del	ENSP00000492984.1:n.*215-90_*215-89del
ENST00000641691.1:c.*215-90_*215-89del	ENSP00000492910.1:n.*215-90_*215-89del
ENST00000641924.1:c.124+5626_124+5627del	ENSP00000493063.1:n.124+5626_124+5627del
ENST00000642050.2:c.363-90_363-89del MANE Select	ENSP00000493153.1:n.363-90_363-89del
ENST00000372779.8:c.450-90_450-89del	ENSP00000361865.4:n.450-90_450-89del
ENST00000433473.7:c.363-90_363-89del	ENSP00000394863.3:n.363-90_363-89del
ENST00000439754.5:c.48-90_48-89del	ENSP00000403207.1:n.48-90_48-89del
ENST00000449045.6:c.125-1977_125-1976del	ENSP00000392293.2:n.125-1977_125-1976del
ENST00000526547.1:c.213-90_213-89del	ENSP00000436481.1:n.213-90_213-89del
ENST00000527311.6:c.138-90_138-89del	ENSP00000436695.2:n.138-90_138-89del
ENST00000529905.5:c.363-90_363-89del	ENSP00000432053.1:n.363-90_363-89del
ENST00000530704.5:c.363-90_363-89del	ENSP00000431655.1:n.363-90_363-89del
NM_000310.3:c.363-90_363-89del , LRG_690t1:c.363-90_363-89del	NP_000301.1:n.363-90_363-89del
NM_001142604.1:c.125-1977_125-1976del	NP_001136076.1:n.125-1977_125-1976del
XM_005271008.1:c.363-90_363-89del	XP_005271065.1:n.363-90_363-89del
NM_001363695.1:c.363-90_363-89del	NP_001350624.1:n.363-90_363-89del
NM_000310.4:c.363-90_363-89del MANE Select	NP_000301.1:n.363-90_363-89del
NM_001142604.2:c.125-1977_125-1976del	NP_001136076.1:n.125-1977_125-1976del
NM_001363695.2:c.363-90_363-89del	NP_001350624.1:n.363-90_363-89del