Canonical Allele Identifier: CA339850249

Gene: PPT1

Linked Data

• dbSNP Id: rs1247243799
• gnomAD v2: 1-40558177-C-G
• gnomAD v4: 1-40092505-C-G
• MyVariant Identifiers: chr1:g.40558177C>G (hg19) ; chr1:g.40092505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092505C>G , CM000663.2:g.40092505C>G	GRCh38
NC_000001.10:g.40558177C>G , CM000663.1:g.40558177C>G	GRCh37
NC_000001.9:g.40330764C>G	NCBI36
NG_009192.1:g.9966G>C , LRG_690:g.9966G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.131G>C	ENSP00000361865.5:p.Arg44Thr
ENST00000433473.8:c.125-1G>C	ENSP00000394863.4:n.125-1G>C
ENST00000439754.6:c.127G>C	ENSP00000403207.2:p.Asp43His
ENST00000449045.7:c.125-2993G>C	ENSP00000392293.2:n.125-2993G>C
ENST00000526547.2:c.407G>C
ENST00000527311.7:c.127G>C	ENSP00000436695.3:p.Asp43His
ENST00000530704.6:c.127G>C	ENSP00000431655.1:p.Asp43His
ENST00000641083.1:c.105G>C
ENST00000641236.1:n.139G>C
ENST00000641319.1:c.127G>C	ENSP00000493128.1:p.Asp43His
ENST00000641471.1:c.214G>C	ENSP00000493146.1:p.Asp72His
ENST00000641548.1:c.125-5G>C	ENSP00000492984.1:n.125-5G>C
ENST00000641691.1:c.125-5G>C	ENSP00000492910.1:n.125-5G>C
ENST00000641924.1:c.124+4610G>C	ENSP00000493063.1:n.124+4610G>C
ENST00000642050.2:c.127G>C MANE Select	ENSP00000493153.1:p.Asp43His
ENST00000372779.8:c.214G>C	ENSP00000361865.4:p.Asp72His
ENST00000433473.7:c.127G>C	ENSP00000394863.3:p.Asp43His
ENST00000449045.6:c.125-2993G>C	ENSP00000392293.2:n.125-2993G>C
ENST00000526547.1:c.-24G>C	ENSP00000436481.1:n.-24G>C
ENST00000527311.6:c.125-448G>C	ENSP00000436695.2:n.125-448G>C
ENST00000529905.5:c.127G>C	ENSP00000432053.1:p.Asp43His
ENST00000530704.5:c.127G>C	ENSP00000431655.1:p.Asp43His
NM_000310.3:c.127G>C , LRG_690t1:c.127G>C	NP_000301.1:p.Asp43His
NM_001142604.1:c.125-2993G>C	NP_001136076.1:n.125-2993G>C
XM_005271008.1:c.127G>C	XP_005271065.1:p.Asp43His
NM_001363695.1:c.127G>C	NP_001350624.1:p.Asp43His
NM_000310.4:c.127G>C MANE Select	NP_000301.1:p.Asp43His
NM_001142604.2:c.125-2993G>C	NP_001136076.1:n.125-2993G>C
NM_001363695.2:c.127G>C	NP_001350624.1:p.Asp43His