Canonical Allele Identifier: CA2612255818

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617172-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617172C>T , CM000673.2:g.6617172C>T	GRCh38
NC_000011.9:g.6638403C>T , CM000673.1:g.6638403C>T	GRCh37
NC_000011.8:g.6594979C>T	NCBI36
NG_008653.1:g.7290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-19G>A	ENSP00000507321.1:n.395-19G>A
ENST00000299427.12:c.509-19G>A MANE Select	ENSP00000299427.6:n.509-19G>A
ENST00000428886.7:n.725G>A
ENST00000436873.7:c.312+129G>A
ENST00000524788.2:n.1649G>A
ENST00000524903.2:n.1765G>A
ENST00000528807.2:n.165-19G>A
ENST00000530040.2:n.479+187G>A
ENST00000533371.6:c.-221-19G>A	ENSP00000437066.1:n.-221-19G>A
ENST00000534644.6:n.457-19G>A
ENST00000642892.1:c.-221-19G>A	ENSP00000494165.1:n.-221-19G>A
ENST00000643439.1:c.*249-19G>A	ENSP00000495849.1:n.*249-19G>A
ENST00000643479.1:n.538-19G>A
ENST00000643516.1:c.395+129G>A
ENST00000644151.1:n.1929G>A
ENST00000644218.1:c.509-19G>A	ENSP00000493574.1:n.509-19G>A
ENST00000644683.1:c.451-19G>A	ENSP00000494085.1:n.451-19G>A
ENST00000644810.1:c.230-19G>A	ENSP00000495895.1:n.230-19G>A
ENST00000644831.1:n.666G>A
ENST00000644933.1:c.-221-19G>A	ENSP00000496133.1:n.-221-19G>A
ENST00000645020.1:n.1665G>A
ENST00000645285.1:c.-221-19G>A	ENSP00000495058.1:n.-221-19G>A
ENST00000645331.1:n.856G>A
ENST00000645620.1:c.-221-19G>A	ENSP00000493657.1:n.-221-19G>A
ENST00000646777.1:n.666G>A
ENST00000647016.1:n.970G>A
ENST00000647152.1:c.-221-19G>A	ENSP00000495893.1:n.-221-19G>A
ENST00000647209.1:c.*378-19G>A	ENSP00000495558.1:n.*378-19G>A
ENST00000647346.1:n.1529-19G>A
ENST00000299427.10:c.509-19G>A	ENSP00000299427.6:n.509-19G>A
ENST00000428886.6:n.659G>A
ENST00000436873.6:c.450+187G>A	ENSP00000398136.2:n.450+187G>A
ENST00000524788.1:n.190G>A
ENST00000528571.5:c.*249-19G>A	ENSP00000434647.1:n.*249-19G>A
ENST00000528807.1:n.40G>A
ENST00000533371.5:c.-221-19G>A	ENSP00000437066.1:n.-221-19G>A
ENST00000534644.5:n.494-19G>A
ENST00000611494.4:c.509-19G>A	ENSP00000484546.1:n.509-19G>A
NM_000391.3:c.509-19G>A	NP_000382.3:n.509-19G>A
NM_000391.4:c.509-19G>A MANE Select	NP_000382.3:n.509-19G>A