Canonical Allele Identifier: CA379472674

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615250-T-A
• MyVariant Identifiers: chr11:g.6636481T>A (hg19) ; chr11:g.6615250T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615250T>A , CM000673.2:g.6615250T>A	GRCh38
NC_000011.9:g.6636481T>A , CM000673.1:g.6636481T>A	GRCh37
NC_000011.8:g.6593057T>A	NCBI36
NG_008653.1:g.9212A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1232A>T	ENSP00000507321.1:p.Tyr411Phe
ENST00000299427.12:c.1346A>T MANE Select	ENSP00000299427.6:p.Tyr449Phe
ENST00000524611.2:n.206A>T
ENST00000524924.2:n.466A>T
ENST00000533371.6:c.617A>T	ENSP00000437066.1:p.Tyr206Phe
ENST00000642892.1:c.617A>T	ENSP00000494165.1:p.Tyr206Phe
ENST00000643342.1:c.419A>T
ENST00000643439.1:c.*1086A>T	ENSP00000495849.1:n.*1086A>T
ENST00000643479.1:n.1532A>T
ENST00000643516.1:c.855A>T
ENST00000644218.1:c.1157A>T	ENSP00000493574.1:p.Tyr386Phe
ENST00000644683.1:c.*799A>T	ENSP00000494085.1:n.*799A>T
ENST00000644810.1:c.1067A>T	ENSP00000495895.1:p.Tyr356Phe
ENST00000644831.1:n.1522A>T
ENST00000644933.1:c.*212A>T	ENSP00000496133.1:n.*212A>T
ENST00000645285.1:c.*212A>T	ENSP00000495058.1:n.*212A>T
ENST00000645331.1:n.2551A>T
ENST00000645620.1:c.617A>T	ENSP00000493657.1:p.Tyr206Phe
ENST00000646691.1:n.1233A>T
ENST00000646777.1:n.1679A>T
ENST00000647016.1:n.1826A>T
ENST00000647152.1:c.617A>T	ENSP00000495893.1:p.Tyr206Phe
ENST00000647209.1:c.*1215A>T	ENSP00000495558.1:n.*1215A>T
ENST00000647346.1:n.2366A>T
ENST00000299427.10:c.1346A>T	ENSP00000299427.6:p.Tyr449Phe
ENST00000524611.1:n.224A>T
ENST00000532191.1:n.399A>T
ENST00000533371.5:c.617A>T	ENSP00000437066.1:p.Tyr206Phe
ENST00000611494.4:c.1346A>T	ENSP00000484546.1:p.Tyr449Phe
NM_000391.3:c.1346A>T	NP_000382.3:p.Tyr449Phe
NM_000391.4:c.1346A>T MANE Select	NP_000382.3:p.Tyr449Phe