Canonical Allele Identifier: CA379472645

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636467C>T (hg19) ; chr11:g.6615236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615236C>T , CM000673.2:g.6615236C>T	GRCh38
NC_000011.9:g.6636467C>T , CM000673.1:g.6636467C>T	GRCh37
NC_000011.8:g.6593043C>T	NCBI36
NG_008653.1:g.9226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1246G>A	ENSP00000507321.1:p.Ala416Thr
ENST00000299427.12:c.1360G>A MANE Select	ENSP00000299427.6:p.Ala454Thr
ENST00000524611.2:n.220G>A
ENST00000524924.2:n.480G>A
ENST00000533371.6:c.631G>A	ENSP00000437066.1:p.Ala211Thr
ENST00000642892.1:c.631G>A	ENSP00000494165.1:p.Ala211Thr
ENST00000643342.1:c.433G>A
ENST00000643439.1:c.*1100G>A	ENSP00000495849.1:n.*1100G>A
ENST00000643479.1:n.1546G>A
ENST00000643516.1:c.869G>A
ENST00000644218.1:c.1171G>A	ENSP00000493574.1:p.Ala391Thr
ENST00000644683.1:c.*813G>A	ENSP00000494085.1:n.*813G>A
ENST00000644810.1:c.1081G>A	ENSP00000495895.1:p.Ala361Thr
ENST00000644831.1:n.1536G>A
ENST00000644933.1:c.*226G>A	ENSP00000496133.1:n.*226G>A
ENST00000645285.1:c.*226G>A	ENSP00000495058.1:n.*226G>A
ENST00000645331.1:n.2565G>A
ENST00000645620.1:c.631G>A	ENSP00000493657.1:p.Ala211Thr
ENST00000646691.1:n.1247G>A
ENST00000646777.1:n.1693G>A
ENST00000647016.1:n.1840G>A
ENST00000647152.1:c.631G>A	ENSP00000495893.1:p.Ala211Thr
ENST00000647209.1:c.*1229G>A	ENSP00000495558.1:n.*1229G>A
ENST00000647346.1:n.2380G>A
ENST00000299427.10:c.1360G>A	ENSP00000299427.6:p.Ala454Thr
ENST00000524611.1:n.238G>A
ENST00000532191.1:n.413G>A
ENST00000533371.5:c.631G>A	ENSP00000437066.1:p.Ala211Thr
ENST00000611494.4:c.1360G>A	ENSP00000484546.1:p.Ala454Thr
NM_000391.3:c.1360G>A	NP_000382.3:p.Ala454Thr
NM_000391.4:c.1360G>A MANE Select	NP_000382.3:p.Ala454Thr