Canonical Allele Identifier: CA339848983
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092058C>A , CM000663.2:g.40092058C>A GRCh38
NC_000001.10:g.40557730C>A , CM000663.1:g.40557730C>A GRCh37
NC_000001.9:g.40330317C>A NCBI36
NG_009192.1:g.10413G>T , LRG_690:g.10413G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*185G>T ENSP00000361865.5:n.*185G>T
ENST00000433473.8:c.346G>T ENSP00000394863.4:p.Gly116Ter
ENST00000439754.6:c.349G>T ENSP00000403207.2:p.Gly117Ter
ENST00000449045.7:c.125-2546G>T ENSP00000392293.2:n.125-2546G>T
ENST00000526547.2:c.629G>T
ENST00000527311.7:c.234+340G>T ENSP00000436695.3:n.234+340G>T
ENST00000530704.6:c.349G>T ENSP00000431655.1:p.Gly117Ter
ENST00000641083.1:c.327G>T
ENST00000641236.1:n.586G>T
ENST00000641319.1:c.349G>T ENSP00000493128.1:p.Gly117Ter
ENST00000641471.1:c.436G>T ENSP00000493146.1:p.Gly146Ter
ENST00000641548.1:c.*201G>T ENSP00000492984.1:n.*201G>T
ENST00000641691.1:c.*201G>T ENSP00000492910.1:n.*201G>T
ENST00000641924.1:c.124+5057G>T ENSP00000493063.1:n.124+5057G>T
ENST00000642050.2:c.349G>T MANE Select ENSP00000493153.1:p.Gly117Ter
ENST00000372779.8:c.436G>T ENSP00000361865.4:p.Gly146Ter
ENST00000433473.7:c.349G>T ENSP00000394863.3:p.Gly117Ter
ENST00000439754.5:c.34G>T ENSP00000403207.1:p.Gly12Ter
ENST00000449045.6:c.125-2546G>T ENSP00000392293.2:n.125-2546G>T
ENST00000526547.1:c.199G>T ENSP00000436481.1:p.Gly67Ter
ENST00000527311.6:c.125-1G>T ENSP00000436695.2:n.125-1G>T
ENST00000529905.5:c.349G>T ENSP00000432053.1:p.Gly117Ter
ENST00000530704.5:c.349G>T ENSP00000431655.1:p.Gly117Ter
NM_000310.3:c.349G>T , LRG_690t1:c.349G>T NP_000301.1:p.Gly117Ter
NM_001142604.1:c.125-2546G>T NP_001136076.1:n.125-2546G>T
XM_005271008.1:c.349G>T XP_005271065.1:p.Gly117Ter
NM_001363695.1:c.349G>T NP_001350624.1:p.Gly117Ter
NM_000310.4:c.349G>T MANE Select NP_000301.1:p.Gly117Ter
NM_001142604.2:c.125-2546G>T NP_001136076.1:n.125-2546G>T
NM_001363695.2:c.349G>T NP_001350624.1:p.Gly117Ter