Canonical Allele Identifier: CA379473012

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615510-T-C
• MyVariant Identifiers: chr11:g.6636741T>C (hg19) ; chr11:g.6615510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615510T>C , CM000673.2:g.6615510T>C	GRCh38
NC_000011.9:g.6636741T>C , CM000673.1:g.6636741T>C	GRCh37
NC_000011.8:g.6593317T>C	NCBI36
NG_008653.1:g.8952A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1084A>G	ENSP00000507321.1:p.Thr362Ala
ENST00000299427.12:c.1198A>G MANE Select	ENSP00000299427.6:p.Thr400Ala
ENST00000436873.7:c.435A>G
ENST00000524924.2:n.318A>G
ENST00000533371.6:c.469A>G	ENSP00000437066.1:p.Thr157Ala
ENST00000642892.1:c.469A>G	ENSP00000494165.1:p.Thr157Ala
ENST00000643342.1:c.271A>G
ENST00000643439.1:c.*938A>G	ENSP00000495849.1:n.*938A>G
ENST00000643479.1:n.1384A>G
ENST00000643516.1:c.707A>G
ENST00000644218.1:c.1009A>G	ENSP00000493574.1:p.Thr337Ala
ENST00000644683.1:c.*651A>G	ENSP00000494085.1:n.*651A>G
ENST00000644810.1:c.919A>G	ENSP00000495895.1:p.Thr307Ala
ENST00000644831.1:n.1374A>G
ENST00000644933.1:c.*64A>G	ENSP00000496133.1:n.*64A>G
ENST00000645285.1:c.*64A>G	ENSP00000495058.1:n.*64A>G
ENST00000645331.1:n.2403A>G
ENST00000645620.1:c.469A>G	ENSP00000493657.1:p.Thr157Ala
ENST00000646691.1:n.973A>G
ENST00000646777.1:n.1531A>G
ENST00000647016.1:n.1678A>G
ENST00000647152.1:c.469A>G	ENSP00000495893.1:p.Thr157Ala
ENST00000647209.1:c.*1067A>G	ENSP00000495558.1:n.*1067A>G
ENST00000647346.1:n.2218A>G
ENST00000299427.10:c.1198A>G	ENSP00000299427.6:p.Thr400Ala
ENST00000524924.1:n.153A>G
ENST00000532191.1:n.251A>G
ENST00000533371.5:c.469A>G	ENSP00000437066.1:p.Thr157Ala
ENST00000611494.4:c.1198A>G	ENSP00000484546.1:p.Thr400Ala
NM_000391.3:c.1198A>G	NP_000382.3:p.Thr400Ala
NM_000391.4:c.1198A>G MANE Select	NP_000382.3:p.Thr400Ala