Canonical Allele Identifier: CA339848866

Gene: PPT1

Linked Data

• dbSNP Id: rs1364617055
• gnomAD v2: 1-40557035-C-A
• MyVariant Identifiers: chr1:g.40557035C>A (hg19) ; chr1:g.40091363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091363C>A , CM000663.2:g.40091363C>A	GRCh38
NC_000001.10:g.40557035C>A , CM000663.1:g.40557035C>A	GRCh37
NC_000001.9:g.40329622C>A	NCBI36
NG_009192.1:g.11108G>T , LRG_690:g.11108G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*235G>T	ENSP00000361865.5:n.*235G>T
ENST00000433473.8:c.396G>T	ENSP00000394863.4:p.Met132Ile
ENST00000439754.6:c.399G>T	ENSP00000403207.2:p.Met133Ile
ENST00000449045.7:c.125-1851G>T	ENSP00000392293.2:n.125-1851G>T
ENST00000526547.2:c.679G>T
ENST00000527311.7:c.271G>T	ENSP00000436695.3:p.Asp91Tyr
ENST00000530704.6:c.399G>T	ENSP00000431655.1:p.Met133Ile
ENST00000641083.1:c.377G>T
ENST00000641236.1:n.636G>T
ENST00000641319.1:c.399G>T	ENSP00000493128.1:p.Met133Ile
ENST00000641381.1:c.11G>T
ENST00000641471.1:c.486G>T	ENSP00000493146.1:p.Met162Ile
ENST00000641548.1:c.*251G>T	ENSP00000492984.1:n.*251G>T
ENST00000641691.1:c.*251G>T	ENSP00000492910.1:n.*251G>T
ENST00000641924.1:c.124+5752G>T	ENSP00000493063.1:n.124+5752G>T
ENST00000642050.2:c.399G>T MANE Select	ENSP00000493153.1:p.Met133Ile
ENST00000372779.8:c.486G>T	ENSP00000361865.4:p.Met162Ile
ENST00000433473.7:c.399G>T	ENSP00000394863.3:p.Met133Ile
ENST00000439754.5:c.84G>T	ENSP00000403207.1:p.Met28Ile
ENST00000449045.6:c.125-1851G>T	ENSP00000392293.2:n.125-1851G>T
ENST00000526547.1:c.249G>T	ENSP00000436481.1:p.Met83Ile
ENST00000527311.6:c.174G>T	ENSP00000436695.2:p.Met58Ile
ENST00000529905.5:c.399G>T	ENSP00000432053.1:p.Met133Ile
ENST00000530704.5:c.399G>T	ENSP00000431655.1:p.Met133Ile
NM_000310.3:c.399G>T , LRG_690t1:c.399G>T	NP_000301.1:p.Met133Ile
NM_001142604.1:c.125-1851G>T	NP_001136076.1:n.125-1851G>T
XM_005271008.1:c.399G>T	XP_005271065.1:p.Met133Ile
NM_001363695.1:c.399G>T	NP_001350624.1:p.Met133Ile
NM_000310.4:c.399G>T MANE Select	NP_000301.1:p.Met133Ile
NM_001142604.2:c.125-1851G>T	NP_001136076.1:n.125-1851G>T
NM_001363695.2:c.399G>T	NP_001350624.1:p.Met133Ile