Canonical Allele Identifier: CA339847610
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1182891415
gnomAD v2: 1-40546085-T-G
gnomAD v4: 1-40080413-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40080413T>G , CM000663.2:g.40080413T>G GRCh38
NC_000001.10:g.40546085T>G , CM000663.1:g.40546085T>G GRCh37
NC_000001.9:g.40318672T>G NCBI36
NG_009192.1:g.22058A>C , LRG_690:g.22058A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.608A>C ENSP00000394863.4:p.Asp203Ala
ENST00000439754.6:c.611A>C ENSP00000403207.2:p.Asp204Ala
ENST00000449045.7:c.302A>C ENSP00000392293.2:p.Asp101Ala
ENST00000527311.7:c.380A>C ENSP00000436695.3:p.Asp127Ala
ENST00000530076.6:c.-47A>C ENSP00000434007.1:n.-47A>C
ENST00000530704.6:c.*234A>C ENSP00000431655.1:n.*234A>C
ENST00000641083.1:c.589A>C
ENST00000641236.1:n.848A>C
ENST00000641319.1:c.611A>C ENSP00000493128.1:p.Asp204Ala
ENST00000641381.1:c.149-3500A>C
ENST00000641471.1:c.698A>C ENSP00000493146.1:p.Asp233Ala
ENST00000641691.1:c.*463A>C ENSP00000492910.1:n.*463A>C
ENST00000641924.1:c.*40A>C ENSP00000493063.1:n.*40A>C
ENST00000642050.2:c.611A>C MANE Select ENSP00000493153.1:p.Asp204Ala
ENST00000372779.8:c.698A>C ENSP00000361865.4:p.Asp233Ala
ENST00000433473.7:c.611A>C ENSP00000394863.3:p.Asp204Ala
ENST00000439754.5:c.296A>C ENSP00000403207.1:p.Asp99Ala
ENST00000449045.6:c.302A>C ENSP00000392293.2:p.Asp101Ala
ENST00000527311.6:c.386A>C ENSP00000436695.2:p.Asp129Ala
ENST00000529905.5:c.611A>C ENSP00000432053.1:p.Asp204Ala
ENST00000530076.5:c.-47A>C ENSP00000434007.1:n.-47A>C
ENST00000530704.5:c.*234A>C ENSP00000431655.1:n.*234A>C
NM_000310.3:c.611A>C , LRG_690t1:c.611A>C NP_000301.1:p.Asp204Ala
NM_001142604.1:c.302A>C NP_001136076.1:p.Asp101Ala
XM_005271008.1:c.611A>C XP_005271065.1:p.Asp204Ala
NM_001363695.1:c.611A>C NP_001350624.1:p.Asp204Ala
NM_000310.4:c.611A>C MANE Select NP_000301.1:p.Asp204Ala
NM_001142604.2:c.302A>C NP_001136076.1:p.Asp101Ala
NM_001363695.2:c.611A>C NP_001350624.1:p.Asp204Ala