Canonical Allele Identifier: CA472922769

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638311T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617080T>C , CM000673.2:g.6617080T>C	GRCh38
NC_000011.9:g.6638311T>C , CM000673.1:g.6638311T>C	GRCh37
NC_000011.8:g.6594887T>C	NCBI36
NG_008653.1:g.7382A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.468A>G	ENSP00000507321.1:p.Val156=
ENST00000299427.12:c.582A>G MANE Select	ENSP00000299427.6:p.Val194=
ENST00000428886.7:n.817A>G
ENST00000436873.7:c.312+221A>G
ENST00000524788.2:n.1741A>G
ENST00000524903.2:n.1857A>G
ENST00000528807.2:n.238A>G
ENST00000530040.2:n.479+279A>G
ENST00000533371.6:c.-148A>G	ENSP00000437066.1:n.-148A>G
ENST00000534644.6:n.530A>G
ENST00000642892.1:c.-148A>G	ENSP00000494165.1:n.-148A>G
ENST00000643439.1:c.*322A>G	ENSP00000495849.1:n.*322A>G
ENST00000643479.1:n.611A>G
ENST00000643516.1:c.395+221A>G
ENST00000644151.1:n.2021A>G
ENST00000644218.1:c.582A>G	ENSP00000493574.1:p.Val194=
ENST00000644683.1:c.*35A>G	ENSP00000494085.1:n.*35A>G
ENST00000644810.1:c.303A>G	ENSP00000495895.1:p.Val101=
ENST00000644831.1:n.758A>G
ENST00000644933.1:c.-148A>G	ENSP00000496133.1:n.-148A>G
ENST00000645020.1:n.1757A>G
ENST00000645285.1:c.-148A>G	ENSP00000495058.1:n.-148A>G
ENST00000645331.1:n.948A>G
ENST00000645620.1:c.-148A>G	ENSP00000493657.1:n.-148A>G
ENST00000646777.1:n.758A>G
ENST00000647016.1:n.1062A>G
ENST00000647152.1:c.-148A>G	ENSP00000495893.1:n.-148A>G
ENST00000647209.1:c.*451A>G	ENSP00000495558.1:n.*451A>G
ENST00000647346.1:n.1602A>G
ENST00000299427.10:c.582A>G	ENSP00000299427.6:p.Val194=
ENST00000428886.6:n.751A>G
ENST00000436873.6:c.450+279A>G	ENSP00000398136.2:n.450+279A>G
ENST00000524788.1:n.282A>G
ENST00000528571.5:c.*322A>G	ENSP00000434647.1:n.*322A>G
ENST00000528807.1:n.132A>G
ENST00000533371.5:c.-148A>G	ENSP00000437066.1:n.-148A>G
ENST00000534644.5:n.567A>G
ENST00000611494.4:c.582A>G	ENSP00000484546.1:p.Val194=
NM_000391.3:c.582A>G	NP_000382.3:p.Val194=
NM_000391.4:c.582A>G MANE Select	NP_000382.3:p.Val194=