Canonical Allele Identifier: CA789646

Gene: PPT1

Linked Data

• dbSNP Id: rs111839720
• ExAC: 1:40546128 T / C
• gnomAD v2: 1-40546128-T-C
• MyVariant Identifiers: chr1:g.40546128T>C (hg19) ; chr1:g.40080456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080456T>C , CM000663.2:g.40080456T>C	GRCh38
NC_000001.10:g.40546128T>C , CM000663.1:g.40546128T>C	GRCh37
NC_000001.9:g.40318715T>C	NCBI36
NG_009192.1:g.22015A>G , LRG_690:g.22015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*404A>G	ENSP00000361865.5:n.*404A>G
ENST00000433473.8:c.565A>G	ENSP00000394863.4:p.Ile189Val
ENST00000439754.6:c.568A>G	ENSP00000403207.2:p.Ile190Val
ENST00000449045.7:c.259A>G	ENSP00000392293.2:p.Ile87Val
ENST00000527311.7:c.337A>G	ENSP00000436695.3:p.Ile113Val
ENST00000530076.6:c.-90A>G	ENSP00000434007.1:n.-90A>G
ENST00000530704.6:c.*191A>G	ENSP00000431655.1:n.*191A>G
ENST00000641083.1:c.546A>G
ENST00000641236.1:n.805A>G
ENST00000641319.1:c.568A>G	ENSP00000493128.1:p.Ile190Val
ENST00000641381.1:c.149-3543A>G
ENST00000641471.1:c.655A>G	ENSP00000493146.1:p.Ile219Val
ENST00000641691.1:c.*420A>G	ENSP00000492910.1:n.*420A>G
ENST00000641924.1:c.156A>G	ENSP00000493063.1:p.Pro52=
ENST00000642050.2:c.568A>G MANE Select	ENSP00000493153.1:p.Ile190Val
ENST00000372779.8:c.655A>G	ENSP00000361865.4:p.Ile219Val
ENST00000433473.7:c.568A>G	ENSP00000394863.3:p.Ile190Val
ENST00000439754.5:c.253A>G	ENSP00000403207.1:p.Ile85Val
ENST00000449045.6:c.259A>G	ENSP00000392293.2:p.Ile87Val
ENST00000527311.6:c.343A>G	ENSP00000436695.2:p.Ile115Val
ENST00000529905.5:c.568A>G	ENSP00000432053.1:p.Ile190Val
ENST00000530076.5:c.-90A>G	ENSP00000434007.1:n.-90A>G
ENST00000530704.5:c.*191A>G	ENSP00000431655.1:n.*191A>G
NM_000310.3:c.568A>G , LRG_690t1:c.568A>G	NP_000301.1:p.Ile190Val
NM_001142604.1:c.259A>G	NP_001136076.1:p.Ile87Val
XM_005271008.1:c.568A>G	XP_005271065.1:p.Ile190Val
NM_001363695.1:c.568A>G	NP_001350624.1:p.Ile190Val
NM_000310.4:c.568A>G MANE Select	NP_000301.1:p.Ile190Val
NM_001142604.2:c.259A>G	NP_001136076.1:p.Ile87Val
NM_001363695.2:c.568A>G	NP_001350624.1:p.Ile190Val