Canonical Allele Identifier: CA2612258111

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616617-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616617C>A , CM000673.2:g.6616617C>A	GRCh38
NC_000011.9:g.6637848C>A , CM000673.1:g.6637848C>A	GRCh37
NC_000011.8:g.6594424C>A	NCBI36
NG_008653.1:g.7845G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.772+44G>T	ENSP00000507321.1:n.772+44G>T
ENST00000299427.12:c.886+44G>T MANE Select	ENSP00000299427.6:n.886+44G>T
ENST00000436873.7:c.313-543G>T
ENST00000524788.2:n.2089G>T
ENST00000524903.2:n.2205G>T
ENST00000528807.2:n.586G>T
ENST00000530040.2:n.480-114G>T
ENST00000533371.6:c.157+44G>T	ENSP00000437066.1:n.157+44G>T
ENST00000642892.1:c.157+44G>T	ENSP00000494165.1:n.157+44G>T
ENST00000643439.1:c.*626+44G>T	ENSP00000495849.1:n.*626+44G>T
ENST00000643479.1:n.959G>T
ENST00000643516.1:c.396-114G>T
ENST00000644218.1:c.886+44G>T	ENSP00000493574.1:n.886+44G>T
ENST00000644683.1:c.*339+44G>T	ENSP00000494085.1:n.*339+44G>T
ENST00000644810.1:c.607+44G>T	ENSP00000495895.1:n.607+44G>T
ENST00000644831.1:n.1062+44G>T
ENST00000644933.1:c.157+44G>T	ENSP00000496133.1:n.157+44G>T
ENST00000645020.1:n.2220G>T
ENST00000645285.1:c.157+44G>T	ENSP00000495058.1:n.157+44G>T
ENST00000645331.1:n.1296G>T
ENST00000645620.1:c.157+44G>T	ENSP00000493657.1:n.157+44G>T
ENST00000646777.1:n.1106G>T
ENST00000647016.1:n.1366+44G>T
ENST00000647152.1:c.157+44G>T	ENSP00000495893.1:n.157+44G>T
ENST00000647209.1:c.*755+44G>T	ENSP00000495558.1:n.*755+44G>T
ENST00000647346.1:n.1906+44G>T
ENST00000299427.10:c.886+44G>T	ENSP00000299427.6:n.886+44G>T
ENST00000436873.6:c.451-114G>T	ENSP00000398136.2:n.451-114G>T
ENST00000528807.1:n.480G>T
ENST00000533371.5:c.157+44G>T	ENSP00000437066.1:n.157+44G>T
ENST00000611494.4:c.886+44G>T	ENSP00000484546.1:n.886+44G>T
NM_000391.3:c.886+44G>T	NP_000382.3:n.886+44G>T
NM_000391.4:c.886+44G>T MANE Select	NP_000382.3:n.886+44G>T