Canonical Allele Identifier: CA339846700
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078595G>C , CM000663.2:g.40078595G>C GRCh38
NC_000001.10:g.40544267G>C , CM000663.1:g.40544267G>C GRCh37
NC_000001.9:g.40316854G>C NCBI36
NG_009192.1:g.23876C>G , LRG_690:g.23876C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.688C>G ENSP00000394863.4:p.Leu230Val
ENST00000439754.6:c.691C>G ENSP00000403207.2:p.Leu231Val
ENST00000449045.7:c.382C>G ENSP00000392293.2:p.Leu128Val
ENST00000527311.7:c.460C>G ENSP00000436695.3:p.Leu154Val
ENST00000530076.6:c.34C>G ENSP00000434007.1:p.Leu12Val
ENST00000530704.6:c.*314C>G ENSP00000431655.1:n.*314C>G
ENST00000641083.1:c.669C>G
ENST00000641236.1:n.928C>G
ENST00000641319.1:c.691C>G ENSP00000493128.1:p.Leu231Val
ENST00000641381.1:c.149-1682C>G
ENST00000641471.1:c.778C>G ENSP00000493146.1:p.Leu260Val
ENST00000641691.1:c.*543C>G ENSP00000492910.1:n.*543C>G
ENST00000641924.1:c.*120C>G ENSP00000493063.1:n.*120C>G
ENST00000642050.2:c.691C>G MANE Select ENSP00000493153.1:p.Leu231Val
ENST00000372775.2:n.88C>G
ENST00000372779.8:c.778C>G ENSP00000361865.4:p.Leu260Val
ENST00000433473.7:c.691C>G ENSP00000394863.3:p.Leu231Val
ENST00000439754.5:c.376C>G ENSP00000403207.1:p.Leu126Val
ENST00000449045.6:c.382C>G ENSP00000392293.2:p.Leu128Val
ENST00000527311.6:c.466C>G ENSP00000436695.2:p.Leu156Val
ENST00000529905.5:c.691C>G ENSP00000432053.1:p.Leu231Val
ENST00000530076.5:c.34C>G ENSP00000434007.1:p.Leu12Val
ENST00000530704.5:c.*314C>G ENSP00000431655.1:n.*314C>G
NM_000310.3:c.691C>G , LRG_690t1:c.691C>G NP_000301.1:p.Leu231Val
NM_001142604.1:c.382C>G NP_001136076.1:p.Leu128Val
XM_005271008.1:c.691C>G XP_005271065.1:p.Leu231Val
NM_001363695.1:c.691C>G NP_001350624.1:p.Leu231Val
NM_000310.4:c.691C>G MANE Select NP_000301.1:p.Leu231Val
NM_001142604.2:c.382C>G NP_001136076.1:p.Leu128Val
NM_001363695.2:c.691C>G NP_001350624.1:p.Leu231Val