Canonical Allele Identifier: CA379475519

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638312A>C (hg19) ; chr11:g.6617081A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617081A>C , CM000673.2:g.6617081A>C	GRCh38
NC_000011.9:g.6638312A>C , CM000673.1:g.6638312A>C	GRCh37
NC_000011.8:g.6594888A>C	NCBI36
NG_008653.1:g.7381T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.467T>G	ENSP00000507321.1:p.Val156Gly
ENST00000299427.12:c.581T>G MANE Select	ENSP00000299427.6:p.Val194Gly
ENST00000428886.7:n.816T>G
ENST00000436873.7:c.312+220T>G
ENST00000524788.2:n.1740T>G
ENST00000524903.2:n.1856T>G
ENST00000528807.2:n.237T>G
ENST00000530040.2:n.479+278T>G
ENST00000533371.6:c.-149T>G	ENSP00000437066.1:n.-149T>G
ENST00000534644.6:n.529T>G
ENST00000642892.1:c.-149T>G	ENSP00000494165.1:n.-149T>G
ENST00000643439.1:c.*321T>G	ENSP00000495849.1:n.*321T>G
ENST00000643479.1:n.610T>G
ENST00000643516.1:c.395+220T>G
ENST00000644151.1:n.2020T>G
ENST00000644218.1:c.581T>G	ENSP00000493574.1:p.Val194Gly
ENST00000644683.1:c.*34T>G	ENSP00000494085.1:n.*34T>G
ENST00000644810.1:c.302T>G	ENSP00000495895.1:p.Val101Gly
ENST00000644831.1:n.757T>G
ENST00000644933.1:c.-149T>G	ENSP00000496133.1:n.-149T>G
ENST00000645020.1:n.1756T>G
ENST00000645285.1:c.-149T>G	ENSP00000495058.1:n.-149T>G
ENST00000645331.1:n.947T>G
ENST00000645620.1:c.-149T>G	ENSP00000493657.1:n.-149T>G
ENST00000646777.1:n.757T>G
ENST00000647016.1:n.1061T>G
ENST00000647152.1:c.-149T>G	ENSP00000495893.1:n.-149T>G
ENST00000647209.1:c.*450T>G	ENSP00000495558.1:n.*450T>G
ENST00000647346.1:n.1601T>G
ENST00000299427.10:c.581T>G	ENSP00000299427.6:p.Val194Gly
ENST00000428886.6:n.750T>G
ENST00000436873.6:c.450+278T>G	ENSP00000398136.2:n.450+278T>G
ENST00000524788.1:n.281T>G
ENST00000528571.5:c.*321T>G	ENSP00000434647.1:n.*321T>G
ENST00000528807.1:n.131T>G
ENST00000533371.5:c.-149T>G	ENSP00000437066.1:n.-149T>G
ENST00000534644.5:n.566T>G
ENST00000611494.4:c.581T>G	ENSP00000484546.1:p.Val194Gly
NM_000391.3:c.581T>G	NP_000382.3:p.Val194Gly
NM_000391.4:c.581T>G MANE Select	NP_000382.3:p.Val194Gly