Canonical Allele Identifier: CA379474980

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637943A>C (hg19) ; chr11:g.6616712A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616712A>C , CM000673.2:g.6616712A>C	GRCh38
NC_000011.9:g.6637943A>C , CM000673.1:g.6637943A>C	GRCh37
NC_000011.8:g.6594519A>C	NCBI36
NG_008653.1:g.7750T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.721T>G	ENSP00000507321.1:p.Tyr241Asp
ENST00000299427.12:c.835T>G MANE Select	ENSP00000299427.6:p.Tyr279Asp
ENST00000436873.7:c.312+589T>G
ENST00000524788.2:n.1994T>G
ENST00000524903.2:n.2110T>G
ENST00000528807.2:n.491T>G
ENST00000530040.2:n.480-209T>G
ENST00000533371.6:c.106T>G	ENSP00000437066.1:p.Tyr36Asp
ENST00000642892.1:c.106T>G	ENSP00000494165.1:p.Tyr36Asp
ENST00000643439.1:c.*575T>G	ENSP00000495849.1:n.*575T>G
ENST00000643479.1:n.864T>G
ENST00000643516.1:c.396-209T>G
ENST00000644151.1:n.2274T>G
ENST00000644218.1:c.835T>G	ENSP00000493574.1:p.Tyr279Asp
ENST00000644683.1:c.*288T>G	ENSP00000494085.1:n.*288T>G
ENST00000644810.1:c.556T>G	ENSP00000495895.1:p.Tyr186Asp
ENST00000644831.1:n.1011T>G
ENST00000644933.1:c.106T>G	ENSP00000496133.1:p.Tyr36Asp
ENST00000645020.1:n.2125T>G
ENST00000645285.1:c.106T>G	ENSP00000495058.1:p.Tyr36Asp
ENST00000645331.1:n.1201T>G
ENST00000645620.1:c.106T>G	ENSP00000493657.1:p.Tyr36Asp
ENST00000646777.1:n.1011T>G
ENST00000647016.1:n.1315T>G
ENST00000647152.1:c.106T>G	ENSP00000495893.1:p.Tyr36Asp
ENST00000647209.1:c.*704T>G	ENSP00000495558.1:n.*704T>G
ENST00000647346.1:n.1855T>G
ENST00000299427.10:c.835T>G	ENSP00000299427.6:p.Tyr279Asp
ENST00000436873.6:c.451-209T>G	ENSP00000398136.2:n.451-209T>G
ENST00000524788.1:n.535T>G
ENST00000528807.1:n.385T>G
ENST00000533371.5:c.106T>G	ENSP00000437066.1:p.Tyr36Asp
ENST00000611494.4:c.835T>G	ENSP00000484546.1:p.Tyr279Asp
NM_000391.3:c.835T>G	NP_000382.3:p.Tyr279Asp
NM_000391.4:c.835T>G MANE Select	NP_000382.3:p.Tyr279Asp