Canonical Allele Identifier: CA2645091592
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40078738-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078738C>T , CM000663.2:g.40078738C>T GRCh38
NC_000001.10:g.40544410C>T , CM000663.1:g.40544410C>T GRCh37
NC_000001.9:g.40316997C>T NCBI36
NG_009192.1:g.23733G>A , LRG_690:g.23733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.625-80G>A ENSP00000394863.4:n.625-80G>A
ENST00000439754.6:c.628-80G>A ENSP00000403207.2:n.628-80G>A
ENST00000449045.7:c.319-80G>A ENSP00000392293.2:n.319-80G>A
ENST00000527311.7:c.397-80G>A ENSP00000436695.3:n.397-80G>A
ENST00000530076.6:c.-30-80G>A ENSP00000434007.1:n.-30-80G>A
ENST00000530704.6:c.*251-80G>A ENSP00000431655.1:n.*251-80G>A
ENST00000641083.1:c.606-80G>A
ENST00000641236.1:n.865-80G>A
ENST00000641319.1:c.628-80G>A ENSP00000493128.1:n.628-80G>A
ENST00000641381.1:c.149-1825G>A
ENST00000641471.1:c.715-80G>A ENSP00000493146.1:n.715-80G>A
ENST00000641691.1:c.*480-80G>A ENSP00000492910.1:n.*480-80G>A
ENST00000641924.1:c.*57-80G>A ENSP00000493063.1:n.*57-80G>A
ENST00000642050.2:c.628-80G>A MANE Select ENSP00000493153.1:n.628-80G>A
ENST00000372775.2:n.24+74G>A
ENST00000372779.8:c.715-80G>A ENSP00000361865.4:n.715-80G>A
ENST00000433473.7:c.628-80G>A ENSP00000394863.3:n.628-80G>A
ENST00000439754.5:c.313-80G>A ENSP00000403207.1:n.313-80G>A
ENST00000449045.6:c.319-80G>A ENSP00000392293.2:n.319-80G>A
ENST00000527311.6:c.403-80G>A ENSP00000436695.2:n.403-80G>A
ENST00000529905.5:c.628-80G>A ENSP00000432053.1:n.628-80G>A
ENST00000530076.5:c.-30-80G>A ENSP00000434007.1:n.-30-80G>A
ENST00000530704.5:c.*251-80G>A ENSP00000431655.1:n.*251-80G>A
NM_000310.3:c.628-80G>A , LRG_690t1:c.628-80G>A NP_000301.1:n.628-80G>A
NM_001142604.1:c.319-80G>A NP_001136076.1:n.319-80G>A
XM_005271008.1:c.628-80G>A XP_005271065.1:n.628-80G>A
NM_001363695.1:c.628-80G>A NP_001350624.1:n.628-80G>A
NM_000310.4:c.628-80G>A MANE Select NP_000301.1:n.628-80G>A
NM_001142604.2:c.319-80G>A NP_001136076.1:n.319-80G>A
NM_001363695.2:c.628-80G>A NP_001350624.1:n.628-80G>A