Canonical Allele Identifier: CA339849012
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092071C>G , CM000663.2:g.40092071C>G GRCh38
NC_000001.10:g.40557743C>G , CM000663.1:g.40557743C>G GRCh37
NC_000001.9:g.40330330C>G NCBI36
NG_009192.1:g.10400G>C , LRG_690:g.10400G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*172G>C ENSP00000361865.5:n.*172G>C
ENST00000433473.8:c.333G>C ENSP00000394863.4:p.Met111Ile
ENST00000439754.6:c.336G>C ENSP00000403207.2:p.Met112Ile
ENST00000449045.7:c.125-2559G>C ENSP00000392293.2:n.125-2559G>C
ENST00000526547.2:c.616G>C
ENST00000527311.7:c.234+327G>C ENSP00000436695.3:n.234+327G>C
ENST00000530704.6:c.336G>C ENSP00000431655.1:p.Met112Ile
ENST00000641083.1:c.314G>C
ENST00000641236.1:n.573G>C
ENST00000641319.1:c.336G>C ENSP00000493128.1:p.Met112Ile
ENST00000641471.1:c.423G>C ENSP00000493146.1:p.Met141Ile
ENST00000641548.1:c.*188G>C ENSP00000492984.1:n.*188G>C
ENST00000641691.1:c.*188G>C ENSP00000492910.1:n.*188G>C
ENST00000641924.1:c.124+5044G>C ENSP00000493063.1:n.124+5044G>C
ENST00000642050.2:c.336G>C MANE Select ENSP00000493153.1:p.Met112Ile
ENST00000372779.8:c.423G>C ENSP00000361865.4:p.Met141Ile
ENST00000433473.7:c.336G>C ENSP00000394863.3:p.Met112Ile
ENST00000439754.5:c.21G>C ENSP00000403207.1:p.Met7Ile
ENST00000449045.6:c.125-2559G>C ENSP00000392293.2:n.125-2559G>C
ENST00000526547.1:c.186G>C ENSP00000436481.1:p.Met62Ile
ENST00000527311.6:c.125-14G>C ENSP00000436695.2:n.125-14G>C
ENST00000529905.5:c.336G>C ENSP00000432053.1:p.Met112Ile
ENST00000530704.5:c.336G>C ENSP00000431655.1:p.Met112Ile
NM_000310.3:c.336G>C , LRG_690t1:c.336G>C NP_000301.1:p.Met112Ile
NM_001142604.1:c.125-2559G>C NP_001136076.1:n.125-2559G>C
XM_005271008.1:c.336G>C XP_005271065.1:p.Met112Ile
NM_001363695.1:c.336G>C NP_001350624.1:p.Met112Ile
NM_000310.4:c.336G>C MANE Select NP_000301.1:p.Met112Ile
NM_001142604.2:c.125-2559G>C NP_001136076.1:n.125-2559G>C
NM_001363695.2:c.336G>C NP_001350624.1:p.Met112Ile