Canonical Allele Identifier: CA379475700

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638547G>T (hg19) ; chr11:g.6617316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617316G>T , CM000673.2:g.6617316G>T	GRCh38
NC_000011.9:g.6638547G>T , CM000673.1:g.6638547G>T	GRCh37
NC_000011.8:g.6595123G>T	NCBI36
NG_008653.1:g.7146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.379C>A	ENSP00000507321.1:p.Pro127Thr
ENST00000299427.12:c.493C>A MANE Select	ENSP00000299427.6:p.Pro165Thr
ENST00000428886.7:n.581C>A
ENST00000436873.7:c.297C>A
ENST00000524788.2:n.1505C>A
ENST00000524903.2:n.1621C>A
ENST00000528571.6:c.*233C>A	ENSP00000434647.1:n.*233C>A
ENST00000528807.2:n.149C>A
ENST00000530040.2:n.479+43C>A
ENST00000533371.6:c.-237C>A	ENSP00000437066.1:n.-237C>A
ENST00000534644.6:n.456+38C>A
ENST00000642892.1:c.-222+38C>A	ENSP00000494165.1:n.-222+38C>A
ENST00000643439.1:c.*233C>A	ENSP00000495849.1:n.*233C>A
ENST00000643479.1:n.522C>A
ENST00000643516.1:c.380C>A
ENST00000644151.1:n.1785C>A
ENST00000644218.1:c.493C>A	ENSP00000493574.1:p.Pro165Thr
ENST00000644683.1:c.450+43C>A	ENSP00000494085.1:n.450+43C>A
ENST00000644810.1:c.230-163C>A	ENSP00000495895.1:n.230-163C>A
ENST00000644831.1:n.522C>A
ENST00000644933.1:c.-237C>A	ENSP00000496133.1:n.-237C>A
ENST00000645020.1:n.1521C>A
ENST00000645285.1:c.-237C>A	ENSP00000495058.1:n.-237C>A
ENST00000645331.1:n.712C>A
ENST00000645620.1:c.-222+43C>A	ENSP00000493657.1:n.-222+43C>A
ENST00000646777.1:n.522C>A
ENST00000647016.1:n.826C>A
ENST00000647152.1:c.-237C>A	ENSP00000495893.1:n.-237C>A
ENST00000647209.1:c.*362C>A	ENSP00000495558.1:n.*362C>A
ENST00000647346.1:n.1513C>A
ENST00000299427.10:c.493C>A	ENSP00000299427.6:p.Pro165Thr
ENST00000428886.6:n.515C>A
ENST00000436873.6:c.450+43C>A	ENSP00000398136.2:n.450+43C>A
ENST00000524788.1:n.46C>A
ENST00000528571.5:c.*233C>A	ENSP00000434647.1:n.*233C>A
ENST00000533371.5:c.-237C>A	ENSP00000437066.1:n.-237C>A
ENST00000534644.5:n.478C>A
ENST00000611494.4:c.493C>A	ENSP00000484546.1:p.Pro165Thr
NM_000391.3:c.493C>A	NP_000382.3:p.Pro165Thr
NM_000391.4:c.493C>A MANE Select	NP_000382.3:p.Pro165Thr