Canonical Allele Identifier: CA2790314102

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615065T>A , CM000673.2:g.6615065T>A	GRCh38
NC_000011.9:g.6636296T>A , CM000673.1:g.6636296T>A	GRCh37
NC_000011.8:g.6592872T>A	NCBI36
NG_008653.1:g.9397A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1312-74A>T	ENSP00000507321.1:n.1312-74A>T
ENST00000299427.12:c.1426-74A>T MANE Select	ENSP00000299427.6:n.1426-74A>T
ENST00000524611.2:n.286-74A>T
ENST00000524924.2:n.546-74A>T
ENST00000533371.6:c.697-74A>T	ENSP00000437066.1:n.697-74A>T
ENST00000642892.1:c.697-74A>T	ENSP00000494165.1:n.697-74A>T
ENST00000643342.1:c.499-74A>T
ENST00000643439.1:c.*1166-74A>T	ENSP00000495849.1:n.*1166-74A>T
ENST00000643479.1:n.1612-74A>T
ENST00000643516.1:c.935-74A>T
ENST00000644218.1:c.1237-74A>T	ENSP00000493574.1:n.1237-74A>T
ENST00000644683.1:c.*879-74A>T	ENSP00000494085.1:n.*879-74A>T
ENST00000644810.1:c.1147-74A>T	ENSP00000495895.1:n.1147-74A>T
ENST00000644831.1:n.1602-74A>T
ENST00000644933.1:c.*292-74A>T	ENSP00000496133.1:n.*292-74A>T
ENST00000645285.1:c.*292-74A>T	ENSP00000495058.1:n.*292-74A>T
ENST00000645331.1:n.2631-74A>T
ENST00000645620.1:c.697-74A>T	ENSP00000493657.1:n.697-74A>T
ENST00000646691.1:n.1313-74A>T
ENST00000646777.1:n.1759-74A>T
ENST00000647016.1:n.1906-74A>T
ENST00000647152.1:c.697-74A>T	ENSP00000495893.1:n.697-74A>T
ENST00000647209.1:c.*1295-74A>T	ENSP00000495558.1:n.*1295-74A>T
ENST00000647346.1:n.2446-74A>T
ENST00000299427.10:c.1426-74A>T	ENSP00000299427.6:n.1426-74A>T
ENST00000524611.1:n.304-74A>T
ENST00000533371.5:c.697-74A>T	ENSP00000437066.1:n.697-74A>T
ENST00000611494.4:c.1426-74A>T	ENSP00000484546.1:n.1426-74A>T
NM_000391.3:c.1426-74A>T	NP_000382.3:n.1426-74A>T
NM_000391.4:c.1426-74A>T MANE Select	NP_000382.3:n.1426-74A>T