Canonical Allele Identifier: CA379475952

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638619A>C (hg19) ; chr11:g.6617388A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617388A>C , CM000673.2:g.6617388A>C	GRCh38
NC_000011.9:g.6638619A>C , CM000673.1:g.6638619A>C	GRCh37
NC_000011.8:g.6595195A>C	NCBI36
NG_008653.1:g.7074T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.307T>G	ENSP00000507321.1:p.Tyr103Asp
ENST00000299427.12:c.421T>G MANE Select	ENSP00000299427.6:p.Tyr141Asp
ENST00000428886.7:n.509T>G
ENST00000436873.7:c.225T>G
ENST00000524788.2:n.1433T>G
ENST00000524903.2:n.1549T>G
ENST00000528571.6:c.*161T>G	ENSP00000434647.1:n.*161T>G
ENST00000528807.2:n.77T>G
ENST00000530040.2:n.450T>G
ENST00000533371.6:c.-309T>G	ENSP00000437066.1:n.-309T>G
ENST00000534644.6:n.422T>G
ENST00000642892.1:c.-256T>G	ENSP00000494165.1:n.-256T>G
ENST00000643439.1:c.*161T>G	ENSP00000495849.1:n.*161T>G
ENST00000643479.1:n.450T>G
ENST00000643516.1:c.308T>G
ENST00000644151.1:n.1713T>G
ENST00000644218.1:c.421T>G	ENSP00000493574.1:p.Tyr141Asp
ENST00000644683.1:c.421T>G	ENSP00000494085.1:p.Tyr141Asp
ENST00000644810.1:c.230-235T>G	ENSP00000495895.1:n.230-235T>G
ENST00000644831.1:n.450T>G
ENST00000644933.1:c.-309T>G	ENSP00000496133.1:n.-309T>G
ENST00000645020.1:n.1449T>G
ENST00000645285.1:c.-309T>G	ENSP00000495058.1:n.-309T>G
ENST00000645331.1:n.640T>G
ENST00000645620.1:c.-251T>G	ENSP00000493657.1:n.-251T>G
ENST00000646777.1:n.450T>G
ENST00000647016.1:n.754T>G
ENST00000647152.1:c.-309T>G	ENSP00000495893.1:n.-309T>G
ENST00000647209.1:c.*290T>G	ENSP00000495558.1:n.*290T>G
ENST00000647346.1:n.1441T>G
ENST00000299427.10:c.421T>G	ENSP00000299427.6:p.Tyr141Asp
ENST00000428886.6:n.443T>G
ENST00000436873.6:c.421T>G	ENSP00000398136.2:p.Tyr141Asp
ENST00000528571.5:c.*161T>G	ENSP00000434647.1:n.*161T>G
ENST00000530040.1:n.533T>G
ENST00000533371.5:c.-309T>G	ENSP00000437066.1:n.-309T>G
ENST00000534644.5:n.406T>G
ENST00000611494.4:c.421T>G	ENSP00000484546.1:p.Tyr141Asp
NM_000391.3:c.421T>G	NP_000382.3:p.Tyr141Asp
NM_000391.4:c.421T>G MANE Select	NP_000382.3:p.Tyr141Asp