Canonical Allele Identifier: CA339846731
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078603A>G , CM000663.2:g.40078603A>G GRCh38
NC_000001.10:g.40544275A>G , CM000663.1:g.40544275A>G GRCh37
NC_000001.9:g.40316862A>G NCBI36
NG_009192.1:g.23868T>C , LRG_690:g.23868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.680T>C ENSP00000394863.4:p.Val227Ala
ENST00000439754.6:c.683T>C ENSP00000403207.2:p.Val228Ala
ENST00000449045.7:c.374T>C ENSP00000392293.2:p.Val125Ala
ENST00000527311.7:c.452T>C ENSP00000436695.3:p.Val151Ala
ENST00000530076.6:c.26T>C ENSP00000434007.1:p.Val9Ala
ENST00000530704.6:c.*306T>C ENSP00000431655.1:n.*306T>C
ENST00000641083.1:c.661T>C
ENST00000641236.1:n.920T>C
ENST00000641319.1:c.683T>C ENSP00000493128.1:p.Val228Ala
ENST00000641381.1:c.149-1690T>C
ENST00000641471.1:c.770T>C ENSP00000493146.1:p.Val257Ala
ENST00000641691.1:c.*535T>C ENSP00000492910.1:n.*535T>C
ENST00000641924.1:c.*112T>C ENSP00000493063.1:n.*112T>C
ENST00000642050.2:c.683T>C MANE Select ENSP00000493153.1:p.Val228Ala
ENST00000372775.2:n.80T>C
ENST00000372779.8:c.770T>C ENSP00000361865.4:p.Val257Ala
ENST00000433473.7:c.683T>C ENSP00000394863.3:p.Val228Ala
ENST00000439754.5:c.368T>C ENSP00000403207.1:p.Val123Ala
ENST00000449045.6:c.374T>C ENSP00000392293.2:p.Val125Ala
ENST00000527311.6:c.458T>C ENSP00000436695.2:p.Val153Ala
ENST00000529905.5:c.683T>C ENSP00000432053.1:p.Val228Ala
ENST00000530076.5:c.26T>C ENSP00000434007.1:p.Val9Ala
ENST00000530704.5:c.*306T>C ENSP00000431655.1:n.*306T>C
NM_000310.3:c.683T>C , LRG_690t1:c.683T>C NP_000301.1:p.Val228Ala
NM_001142604.1:c.374T>C NP_001136076.1:p.Val125Ala
XM_005271008.1:c.683T>C XP_005271065.1:p.Val228Ala
NM_001363695.1:c.683T>C NP_001350624.1:p.Val228Ala
NM_000310.4:c.683T>C MANE Select NP_000301.1:p.Val228Ala
NM_001142604.2:c.374T>C NP_001136076.1:p.Val125Ala
NM_001363695.2:c.683T>C NP_001350624.1:p.Val228Ala