Canonical Allele Identifier: CA2612258519

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616957-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616957G>T , CM000673.2:g.6616957G>T	GRCh38
NC_000011.9:g.6638188G>T , CM000673.1:g.6638188G>T	GRCh37
NC_000011.8:g.6594764G>T	NCBI36
NG_008653.1:g.7505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.573+18C>A	ENSP00000507321.1:n.573+18C>A
ENST00000299427.12:c.687+18C>A MANE Select	ENSP00000299427.6:n.687+18C>A
ENST00000436873.7:c.312+344C>A
ENST00000524788.2:n.1846+18C>A
ENST00000524903.2:n.1962+18C>A
ENST00000528807.2:n.343+18C>A
ENST00000530040.2:n.479+402C>A
ENST00000533371.6:c.-43+18C>A	ENSP00000437066.1:n.-43+18C>A
ENST00000642892.1:c.-43+18C>A	ENSP00000494165.1:n.-43+18C>A
ENST00000643439.1:c.*427+18C>A	ENSP00000495849.1:n.*427+18C>A
ENST00000643479.1:n.716+18C>A
ENST00000643516.1:c.395+344C>A
ENST00000644151.1:n.2126+18C>A
ENST00000644218.1:c.687+18C>A	ENSP00000493574.1:n.687+18C>A
ENST00000644683.1:c.*140+18C>A	ENSP00000494085.1:n.*140+18C>A
ENST00000644810.1:c.408+18C>A	ENSP00000495895.1:n.408+18C>A
ENST00000644831.1:n.863+18C>A
ENST00000644933.1:c.-43+18C>A	ENSP00000496133.1:n.-43+18C>A
ENST00000645020.1:n.1880C>A
ENST00000645285.1:c.-43+18C>A	ENSP00000495058.1:n.-43+18C>A
ENST00000645331.1:n.1053+18C>A
ENST00000645620.1:c.-43+18C>A	ENSP00000493657.1:n.-43+18C>A
ENST00000646777.1:n.863+18C>A
ENST00000647016.1:n.1167+18C>A
ENST00000647152.1:c.-43+18C>A	ENSP00000495893.1:n.-43+18C>A
ENST00000647209.1:c.*556+18C>A	ENSP00000495558.1:n.*556+18C>A
ENST00000647346.1:n.1707+18C>A
ENST00000299427.10:c.687+18C>A	ENSP00000299427.6:n.687+18C>A
ENST00000436873.6:c.450+402C>A	ENSP00000398136.2:n.450+402C>A
ENST00000524788.1:n.387+18C>A
ENST00000528807.1:n.237+18C>A
ENST00000533371.5:c.-43+18C>A	ENSP00000437066.1:n.-43+18C>A
ENST00000611494.4:c.687+18C>A	ENSP00000484546.1:n.687+18C>A
NM_000391.3:c.687+18C>A	NP_000382.3:n.687+18C>A
NM_000391.4:c.687+18C>A MANE Select	NP_000382.3:n.687+18C>A