Canonical Allele Identifier: CA379476181

Gene: TPP1

Linked Data

• dbSNP Id: rs1855606693
• gnomAD v3: 11-6617644-G-A
• gnomAD v4: 11-6617644-G-A
• MyVariant Identifiers: chr11:g.6638875G>A (hg19) ; chr11:g.6617644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617644G>A , CM000673.2:g.6617644G>A	GRCh38
NC_000011.9:g.6638875G>A , CM000673.1:g.6638875G>A	GRCh37
NC_000011.8:g.6595451G>A	NCBI36
NG_008653.1:g.6818C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.248C>T	ENSP00000507321.1:p.Thr83Ile
ENST00000299427.12:c.362C>T MANE Select	ENSP00000299427.6:p.Thr121Ile
ENST00000428886.7:n.450C>T
ENST00000436873.7:c.166C>T
ENST00000524788.2:n.1374C>T
ENST00000524903.2:n.1490C>T
ENST00000528571.6:c.*102C>T	ENSP00000434647.1:n.*102C>T
ENST00000530040.2:n.391C>T
ENST00000533371.6:c.-368C>T	ENSP00000437066.1:n.-368C>T
ENST00000534644.6:n.363C>T
ENST00000642892.1:c.-315C>T	ENSP00000494165.1:n.-315C>T
ENST00000643439.1:c.*102C>T	ENSP00000495849.1:n.*102C>T
ENST00000643479.1:n.391C>T
ENST00000643516.1:c.249C>T
ENST00000644151.1:n.1654C>T
ENST00000644218.1:c.362C>T	ENSP00000493574.1:p.Thr121Ile
ENST00000644683.1:c.362C>T	ENSP00000494085.1:p.Thr121Ile
ENST00000644810.1:c.230-491C>T	ENSP00000495895.1:n.230-491C>T
ENST00000644831.1:n.391C>T
ENST00000644933.1:c.-368C>T	ENSP00000496133.1:n.-368C>T
ENST00000645020.1:n.1390C>T
ENST00000645285.1:c.-368C>T	ENSP00000495058.1:n.-368C>T
ENST00000645331.1:n.384C>T
ENST00000645620.1:c.-310C>T	ENSP00000493657.1:n.-310C>T
ENST00000646777.1:n.391C>T
ENST00000647016.1:n.695C>T
ENST00000647152.1:c.-368C>T	ENSP00000495893.1:n.-368C>T
ENST00000647209.1:c.*231C>T	ENSP00000495558.1:n.*231C>T
ENST00000647346.1:n.1382C>T
ENST00000299427.10:c.362C>T	ENSP00000299427.6:p.Thr121Ile
ENST00000428886.6:n.384C>T
ENST00000436873.6:c.362C>T	ENSP00000398136.2:p.Thr121Ile
ENST00000528571.5:c.*102C>T	ENSP00000434647.1:n.*102C>T
ENST00000530040.1:n.474C>T
ENST00000533371.5:c.-368C>T	ENSP00000437066.1:n.-368C>T
ENST00000534644.5:n.347C>T
ENST00000611494.4:c.362C>T	ENSP00000484546.1:p.Thr121Ile
NM_000391.3:c.362C>T	NP_000382.3:p.Thr121Ile
NM_000391.4:c.362C>T MANE Select	NP_000382.3:p.Thr121Ile