Canonical Allele Identifier: CA472771586

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615469-G-A
• MyVariant Identifiers: chr11:g.6636700G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615469G>A , CM000673.2:g.6615469G>A	GRCh38
NC_000011.9:g.6636700G>A , CM000673.1:g.6636700G>A	GRCh37
NC_000011.8:g.6593276G>A	NCBI36
NG_008653.1:g.8993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1125C>T	ENSP00000507321.1:p.Ser375=
ENST00000299427.12:c.1239C>T MANE Select	ENSP00000299427.6:p.Ser413=
ENST00000436873.7:c.476C>T
ENST00000524924.2:n.359C>T
ENST00000533371.6:c.510C>T	ENSP00000437066.1:p.Ser170=
ENST00000642892.1:c.510C>T	ENSP00000494165.1:p.Ser170=
ENST00000643342.1:c.312C>T
ENST00000643439.1:c.*979C>T	ENSP00000495849.1:n.*979C>T
ENST00000643479.1:n.1425C>T
ENST00000643516.1:c.748C>T
ENST00000644218.1:c.1050C>T	ENSP00000493574.1:p.Ser350=
ENST00000644683.1:c.*692C>T	ENSP00000494085.1:n.*692C>T
ENST00000644810.1:c.960C>T	ENSP00000495895.1:p.Ser320=
ENST00000644831.1:n.1415C>T
ENST00000644933.1:c.*105C>T	ENSP00000496133.1:n.*105C>T
ENST00000645285.1:c.*105C>T	ENSP00000495058.1:n.*105C>T
ENST00000645331.1:n.2444C>T
ENST00000645620.1:c.510C>T	ENSP00000493657.1:p.Ser170=
ENST00000646691.1:n.1014C>T
ENST00000646777.1:n.1572C>T
ENST00000647016.1:n.1719C>T
ENST00000647152.1:c.510C>T	ENSP00000495893.1:p.Ser170=
ENST00000647209.1:c.*1108C>T	ENSP00000495558.1:n.*1108C>T
ENST00000647346.1:n.2259C>T
ENST00000299427.10:c.1239C>T	ENSP00000299427.6:p.Ser413=
ENST00000524611.1:n.5C>T
ENST00000524924.1:n.194C>T
ENST00000532191.1:n.292C>T
ENST00000533371.5:c.510C>T	ENSP00000437066.1:p.Ser170=
ENST00000611494.4:c.1239C>T	ENSP00000484546.1:p.Ser413=
NM_000391.3:c.1239C>T	NP_000382.3:p.Ser413=
NM_000391.4:c.1239C>T MANE Select	NP_000382.3:p.Ser413=