Canonical Allele Identifier: CA735694897

Gene: PPT1

Linked Data

• dbSNP Id: rs1177625015
• gnomAD v4: 1-40092568-ACT-A
• MyVariant Identifiers: chr1:g.40558241_40558242del (hg19) ; chr1:g.40092569_40092570del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092571_40092572del , CM000663.2:g.40092571_40092572del	GRCh38
NC_000001.10:g.40558243_40558244del , CM000663.1:g.40558243_40558244del	GRCh37
NC_000001.9:g.40330830_40330831del	NCBI36
NG_009192.1:g.9901_9902del , LRG_690:g.9901_9902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-63_129-62del	ENSP00000361865.5:n.129-63_129-62del
ENST00000433473.8:c.125-66_125-65del	ENSP00000394863.4:n.125-66_125-65del
ENST00000439754.6:c.125-63_125-62del	ENSP00000403207.2:n.125-63_125-62del
ENST00000449045.7:c.125-3058_125-3057del	ENSP00000392293.2:n.125-3058_125-3057del
ENST00000526547.2:c.405-63_405-62del
ENST00000527311.7:c.125-63_125-62del	ENSP00000436695.3:n.125-63_125-62del
ENST00000530704.6:c.125-63_125-62del	ENSP00000431655.1:n.125-63_125-62del
ENST00000641083.1:c.103-63_103-62del
ENST00000641236.1:n.137-63_137-62del
ENST00000641319.1:c.125-63_125-62del	ENSP00000493128.1:n.125-63_125-62del
ENST00000641471.1:c.212-63_212-62del	ENSP00000493146.1:n.212-63_212-62del
ENST00000641548.1:c.125-70_125-69del	ENSP00000492984.1:n.125-70_125-69del
ENST00000641691.1:c.125-70_125-69del	ENSP00000492910.1:n.125-70_125-69del
ENST00000641924.1:c.124+4545_124+4546del	ENSP00000493063.1:n.124+4545_124+4546del
ENST00000642050.2:c.125-63_125-62del MANE Select	ENSP00000493153.1:n.125-63_125-62del
ENST00000372779.8:c.212-63_212-62del	ENSP00000361865.4:n.212-63_212-62del
ENST00000433473.7:c.125-63_125-62del	ENSP00000394863.3:n.125-63_125-62del
ENST00000449045.6:c.125-3058_125-3057del	ENSP00000392293.2:n.125-3058_125-3057del
ENST00000526547.1:c.-26-63_-26-62del	ENSP00000436481.1:n.-26-63_-26-62del
ENST00000527311.6:c.125-513_125-512del	ENSP00000436695.2:n.125-513_125-512del
ENST00000529905.5:c.125-63_125-62del	ENSP00000432053.1:n.125-63_125-62del
ENST00000530704.5:c.125-63_125-62del	ENSP00000431655.1:n.125-63_125-62del
NM_000310.3:c.125-63_125-62del , LRG_690t1:c.125-63_125-62del	NP_000301.1:n.125-63_125-62del
NM_001142604.1:c.125-3058_125-3057del	NP_001136076.1:n.125-3058_125-3057del
XM_005271008.1:c.125-63_125-62del	XP_005271065.1:n.125-63_125-62del
NM_001363695.1:c.125-63_125-62del	NP_001350624.1:n.125-63_125-62del
NM_000310.4:c.125-63_125-62del MANE Select	NP_000301.1:n.125-63_125-62del
NM_001142604.2:c.125-3058_125-3057del	NP_001136076.1:n.125-3058_125-3057del
NM_001363695.2:c.125-63_125-62del	NP_001350624.1:n.125-63_125-62del