Canonical Allele Identifier: CA472771454

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636682A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615451A>G , CM000673.2:g.6615451A>G	GRCh38
NC_000011.9:g.6636682A>G , CM000673.1:g.6636682A>G	GRCh37
NC_000011.8:g.6593258A>G	NCBI36
NG_008653.1:g.9011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1143T>C	ENSP00000507321.1:p.Pro381=
ENST00000299427.12:c.1257T>C MANE Select	ENSP00000299427.6:p.Pro419=
ENST00000436873.7:c.494T>C
ENST00000524611.2:n.5T>C
ENST00000524924.2:n.377T>C
ENST00000533371.6:c.528T>C	ENSP00000437066.1:p.Pro176=
ENST00000642892.1:c.528T>C	ENSP00000494165.1:p.Pro176=
ENST00000643342.1:c.330T>C
ENST00000643439.1:c.*997T>C	ENSP00000495849.1:n.*997T>C
ENST00000643479.1:n.1443T>C
ENST00000643516.1:c.766T>C
ENST00000644218.1:c.1068T>C	ENSP00000493574.1:p.Pro356=
ENST00000644683.1:c.*710T>C	ENSP00000494085.1:n.*710T>C
ENST00000644810.1:c.978T>C	ENSP00000495895.1:p.Pro326=
ENST00000644831.1:n.1433T>C
ENST00000644933.1:c.*123T>C	ENSP00000496133.1:n.*123T>C
ENST00000645285.1:c.*123T>C	ENSP00000495058.1:n.*123T>C
ENST00000645331.1:n.2462T>C
ENST00000645620.1:c.528T>C	ENSP00000493657.1:p.Pro176=
ENST00000646691.1:n.1032T>C
ENST00000646777.1:n.1590T>C
ENST00000647016.1:n.1737T>C
ENST00000647152.1:c.528T>C	ENSP00000495893.1:p.Pro176=
ENST00000647209.1:c.*1126T>C	ENSP00000495558.1:n.*1126T>C
ENST00000647346.1:n.2277T>C
ENST00000299427.10:c.1257T>C	ENSP00000299427.6:p.Pro419=
ENST00000524611.1:n.23T>C
ENST00000524924.1:n.212T>C
ENST00000532191.1:n.310T>C
ENST00000533371.5:c.528T>C	ENSP00000437066.1:p.Pro176=
ENST00000611494.4:c.1257T>C	ENSP00000484546.1:p.Pro419=
NM_000391.3:c.1257T>C	NP_000382.3:p.Pro419=
NM_000391.4:c.1257T>C MANE Select	NP_000382.3:p.Pro419=