Canonical Allele Identifier: CA379475400

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638251T>G (hg19) ; chr11:g.6617020T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617020T>G , CM000673.2:g.6617020T>G	GRCh38
NC_000011.9:g.6638251T>G , CM000673.1:g.6638251T>G	GRCh37
NC_000011.8:g.6594827T>G	NCBI36
NG_008653.1:g.7442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.528A>C	ENSP00000507321.1:p.Gln176His
ENST00000299427.12:c.642A>C MANE Select	ENSP00000299427.6:p.Gln214His
ENST00000436873.7:c.312+281A>C
ENST00000524788.2:n.1801A>C
ENST00000524903.2:n.1917A>C
ENST00000528807.2:n.298A>C
ENST00000530040.2:n.479+339A>C
ENST00000533371.6:c.-88A>C	ENSP00000437066.1:n.-88A>C
ENST00000534644.6:n.590A>C
ENST00000642892.1:c.-88A>C	ENSP00000494165.1:n.-88A>C
ENST00000643439.1:c.*382A>C	ENSP00000495849.1:n.*382A>C
ENST00000643479.1:n.671A>C
ENST00000643516.1:c.395+281A>C
ENST00000644151.1:n.2081A>C
ENST00000644218.1:c.642A>C	ENSP00000493574.1:p.Gln214His
ENST00000644683.1:c.*95A>C	ENSP00000494085.1:n.*95A>C
ENST00000644810.1:c.363A>C	ENSP00000495895.1:p.Gln121His
ENST00000644831.1:n.818A>C
ENST00000644933.1:c.-88A>C	ENSP00000496133.1:n.-88A>C
ENST00000645020.1:n.1817A>C
ENST00000645285.1:c.-88A>C	ENSP00000495058.1:n.-88A>C
ENST00000645331.1:n.1008A>C
ENST00000645620.1:c.-88A>C	ENSP00000493657.1:n.-88A>C
ENST00000646777.1:n.818A>C
ENST00000647016.1:n.1122A>C
ENST00000647152.1:c.-88A>C	ENSP00000495893.1:n.-88A>C
ENST00000647209.1:c.*511A>C	ENSP00000495558.1:n.*511A>C
ENST00000647346.1:n.1662A>C
ENST00000299427.10:c.642A>C	ENSP00000299427.6:p.Gln214His
ENST00000428886.6:n.811A>C
ENST00000436873.6:c.450+339A>C	ENSP00000398136.2:n.450+339A>C
ENST00000524788.1:n.342A>C
ENST00000528571.5:c.*382A>C	ENSP00000434647.1:n.*382A>C
ENST00000528807.1:n.192A>C
ENST00000533371.5:c.-88A>C	ENSP00000437066.1:n.-88A>C
ENST00000534644.5:n.627A>C
ENST00000611494.4:c.642A>C	ENSP00000484546.1:p.Gln214His
NM_000391.3:c.642A>C	NP_000382.3:p.Gln214His
NM_000391.4:c.642A>C MANE Select	NP_000382.3:p.Gln214His