Canonical Allele Identifier: CA379475050

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637981C>G (hg19) ; chr11:g.6616750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616750C>G , CM000673.2:g.6616750C>G	GRCh38
NC_000011.9:g.6637981C>G , CM000673.1:g.6637981C>G	GRCh37
NC_000011.8:g.6594557C>G	NCBI36
NG_008653.1:g.7712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.683G>C	ENSP00000507321.1:p.Arg228Pro
ENST00000299427.12:c.797G>C MANE Select	ENSP00000299427.6:p.Arg266Pro
ENST00000436873.7:c.312+551G>C
ENST00000524788.2:n.1956G>C
ENST00000524903.2:n.2072G>C
ENST00000528807.2:n.453G>C
ENST00000530040.2:n.480-247G>C
ENST00000533371.6:c.68G>C	ENSP00000437066.1:p.Arg23Pro
ENST00000642892.1:c.68G>C	ENSP00000494165.1:p.Arg23Pro
ENST00000643439.1:c.*537G>C	ENSP00000495849.1:n.*537G>C
ENST00000643479.1:n.826G>C
ENST00000643516.1:c.396-247G>C
ENST00000644151.1:n.2236G>C
ENST00000644218.1:c.797G>C	ENSP00000493574.1:p.Arg266Pro
ENST00000644683.1:c.*250G>C	ENSP00000494085.1:n.*250G>C
ENST00000644810.1:c.518G>C	ENSP00000495895.1:p.Arg173Pro
ENST00000644831.1:n.973G>C
ENST00000644933.1:c.68G>C	ENSP00000496133.1:p.Arg23Pro
ENST00000645020.1:n.2087G>C
ENST00000645285.1:c.68G>C	ENSP00000495058.1:p.Arg23Pro
ENST00000645331.1:n.1163G>C
ENST00000645620.1:c.68G>C	ENSP00000493657.1:p.Arg23Pro
ENST00000646777.1:n.973G>C
ENST00000647016.1:n.1277G>C
ENST00000647152.1:c.68G>C	ENSP00000495893.1:p.Arg23Pro
ENST00000647209.1:c.*666G>C	ENSP00000495558.1:n.*666G>C
ENST00000647346.1:n.1817G>C
ENST00000299427.10:c.797G>C	ENSP00000299427.6:p.Arg266Pro
ENST00000436873.6:c.451-247G>C	ENSP00000398136.2:n.451-247G>C
ENST00000524788.1:n.497G>C
ENST00000528807.1:n.347G>C
ENST00000533371.5:c.68G>C	ENSP00000437066.1:p.Arg23Pro
ENST00000611494.4:c.797G>C	ENSP00000484546.1:p.Arg266Pro
NM_000391.3:c.797G>C	NP_000382.3:p.Arg266Pro
NM_000391.4:c.797G>C MANE Select	NP_000382.3:p.Arg266Pro