Canonical Allele Identifier: CA339849704
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092428T>G , CM000663.2:g.40092428T>G GRCh38
NC_000001.10:g.40558100T>G , CM000663.1:g.40558100T>G GRCh37
NC_000001.9:g.40330687T>G NCBI36
NG_009192.1:g.10043A>C , LRG_690:g.10043A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*40A>C ENSP00000361865.5:n.*40A>C
ENST00000433473.8:c.201A>C ENSP00000394863.4:p.Leu67Phe
ENST00000439754.6:c.204A>C ENSP00000403207.2:p.Leu68Phe
ENST00000449045.7:c.125-2916A>C ENSP00000392293.2:n.125-2916A>C
ENST00000526547.2:c.484A>C
ENST00000527311.7:c.204A>C ENSP00000436695.3:p.Leu68Phe
ENST00000530704.6:c.204A>C ENSP00000431655.1:p.Leu68Phe
ENST00000641083.1:c.182A>C
ENST00000641236.1:n.216A>C
ENST00000641319.1:c.204A>C ENSP00000493128.1:p.Leu68Phe
ENST00000641471.1:c.291A>C ENSP00000493146.1:p.Leu97Phe
ENST00000641548.1:c.*56A>C ENSP00000492984.1:n.*56A>C
ENST00000641691.1:c.*56A>C ENSP00000492910.1:n.*56A>C
ENST00000641924.1:c.124+4687A>C ENSP00000493063.1:n.124+4687A>C
ENST00000642050.2:c.204A>C MANE Select ENSP00000493153.1:p.Leu68Phe
ENST00000372779.8:c.291A>C ENSP00000361865.4:p.Leu97Phe
ENST00000433473.7:c.204A>C ENSP00000394863.3:p.Leu68Phe
ENST00000449045.6:c.125-2916A>C ENSP00000392293.2:n.125-2916A>C
ENST00000526547.1:c.54A>C ENSP00000436481.1:p.Leu18Phe
ENST00000527311.6:c.125-371A>C ENSP00000436695.2:n.125-371A>C
ENST00000529905.5:c.204A>C ENSP00000432053.1:p.Leu68Phe
ENST00000530704.5:c.204A>C ENSP00000431655.1:p.Leu68Phe
NM_000310.3:c.204A>C , LRG_690t1:c.204A>C NP_000301.1:p.Leu68Phe
NM_001142604.1:c.125-2916A>C NP_001136076.1:n.125-2916A>C
XM_005271008.1:c.204A>C XP_005271065.1:p.Leu68Phe
NM_001363695.1:c.204A>C NP_001350624.1:p.Leu68Phe
NM_000310.4:c.204A>C MANE Select NP_000301.1:p.Leu68Phe
NM_001142604.2:c.125-2916A>C NP_001136076.1:n.125-2916A>C
NM_001363695.2:c.204A>C NP_001350624.1:p.Leu68Phe