Canonical Allele Identifier: CA379476039

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617412-G-A
• MyVariant Identifiers: chr11:g.6638643G>A (hg19) ; chr11:g.6617412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617412G>A , CM000673.2:g.6617412G>A	GRCh38
NC_000011.9:g.6638643G>A , CM000673.1:g.6638643G>A	GRCh37
NC_000011.8:g.6595219G>A	NCBI36
NG_008653.1:g.7050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.283C>T	ENSP00000507321.1:p.Leu95Phe
ENST00000299427.12:c.397C>T MANE Select	ENSP00000299427.6:p.Leu133Phe
ENST00000428886.7:n.485C>T
ENST00000436873.7:c.201C>T
ENST00000524788.2:n.1409C>T
ENST00000524903.2:n.1525C>T
ENST00000528571.6:c.*137C>T	ENSP00000434647.1:n.*137C>T
ENST00000528807.2:n.53C>T
ENST00000530040.2:n.426C>T
ENST00000533371.6:c.-333C>T	ENSP00000437066.1:n.-333C>T
ENST00000534644.6:n.398C>T
ENST00000642892.1:c.-280C>T	ENSP00000494165.1:n.-280C>T
ENST00000643439.1:c.*137C>T	ENSP00000495849.1:n.*137C>T
ENST00000643479.1:n.426C>T
ENST00000643516.1:c.284C>T
ENST00000644151.1:n.1689C>T
ENST00000644218.1:c.397C>T	ENSP00000493574.1:p.Leu133Phe
ENST00000644683.1:c.397C>T	ENSP00000494085.1:p.Leu133Phe
ENST00000644810.1:c.230-259C>T	ENSP00000495895.1:n.230-259C>T
ENST00000644831.1:n.426C>T
ENST00000644933.1:c.-333C>T	ENSP00000496133.1:n.-333C>T
ENST00000645020.1:n.1425C>T
ENST00000645285.1:c.-333C>T	ENSP00000495058.1:n.-333C>T
ENST00000645331.1:n.616C>T
ENST00000645620.1:c.-275C>T	ENSP00000493657.1:n.-275C>T
ENST00000646777.1:n.426C>T
ENST00000647016.1:n.730C>T
ENST00000647152.1:c.-333C>T	ENSP00000495893.1:n.-333C>T
ENST00000647209.1:c.*266C>T	ENSP00000495558.1:n.*266C>T
ENST00000647346.1:n.1417C>T
ENST00000299427.10:c.397C>T	ENSP00000299427.6:p.Leu133Phe
ENST00000428886.6:n.419C>T
ENST00000436873.6:c.397C>T	ENSP00000398136.2:p.Leu133Phe
ENST00000528571.5:c.*137C>T	ENSP00000434647.1:n.*137C>T
ENST00000530040.1:n.509C>T
ENST00000533371.5:c.-333C>T	ENSP00000437066.1:n.-333C>T
ENST00000534644.5:n.382C>T
ENST00000611494.4:c.397C>T	ENSP00000484546.1:p.Leu133Phe
NM_000391.3:c.397C>T	NP_000382.3:p.Leu133Phe
NM_000391.4:c.397C>T MANE Select	NP_000382.3:p.Leu133Phe