Canonical Allele Identifier: CA21007549
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs931117995

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40080467C>T , CM000663.2:g.40080467C>T GRCh38
NC_000001.10:g.40546139C>T , CM000663.1:g.40546139C>T GRCh37
NC_000001.9:g.40318726C>T NCBI36
NG_009192.1:g.22004G>A , LRG_690:g.22004G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*393G>A ENSP00000361865.5:n.*393G>A
ENST00000433473.8:c.554G>A ENSP00000394863.4:p.Trp185Ter
ENST00000439754.6:c.557G>A ENSP00000403207.2:p.Trp186Ter
ENST00000449045.7:c.248G>A ENSP00000392293.2:p.Trp83Ter
ENST00000527311.7:c.326G>A ENSP00000436695.3:p.Trp109Ter
ENST00000530076.6:c.-101G>A ENSP00000434007.1:n.-101G>A
ENST00000530704.6:c.*180G>A ENSP00000431655.1:n.*180G>A
ENST00000641083.1:c.535G>A
ENST00000641236.1:n.794G>A
ENST00000641319.1:c.557G>A ENSP00000493128.1:p.Trp186Ter
ENST00000641381.1:c.149-3554G>A
ENST00000641471.1:c.644G>A ENSP00000493146.1:p.Trp215Ter
ENST00000641691.1:c.*409G>A ENSP00000492910.1:n.*409G>A
ENST00000641924.1:c.145G>A ENSP00000493063.1:p.Gly49Ser
ENST00000642050.2:c.557G>A MANE Select ENSP00000493153.1:p.Trp186Ter
ENST00000372779.8:c.644G>A ENSP00000361865.4:p.Trp215Ter
ENST00000433473.7:c.557G>A ENSP00000394863.3:p.Trp186Ter
ENST00000439754.5:c.242G>A ENSP00000403207.1:p.Trp81Ter
ENST00000449045.6:c.248G>A ENSP00000392293.2:p.Trp83Ter
ENST00000527311.6:c.332G>A ENSP00000436695.2:p.Trp111Ter
ENST00000529905.5:c.557G>A ENSP00000432053.1:p.Trp186Ter
ENST00000530076.5:c.-101G>A ENSP00000434007.1:n.-101G>A
ENST00000530704.5:c.*180G>A ENSP00000431655.1:n.*180G>A
NM_000310.3:c.557G>A , LRG_690t1:c.557G>A NP_000301.1:p.Trp186Ter
NM_001142604.1:c.248G>A NP_001136076.1:p.Trp83Ter
XM_005271008.1:c.557G>A XP_005271065.1:p.Trp186Ter
NM_001363695.1:c.557G>A NP_001350624.1:p.Trp186Ter
NM_000310.4:c.557G>A MANE Select NP_000301.1:p.Trp186Ter
NM_001142604.2:c.248G>A NP_001136076.1:p.Trp83Ter
NM_001363695.2:c.557G>A NP_001350624.1:p.Trp186Ter