Canonical Allele Identifier: CA472922870

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638380C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617149C>G , CM000673.2:g.6617149C>G	GRCh38
NC_000011.9:g.6638380C>G , CM000673.1:g.6638380C>G	GRCh37
NC_000011.8:g.6594956C>G	NCBI36
NG_008653.1:g.7313G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.399G>C	ENSP00000507321.1:p.Gly133=
ENST00000299427.12:c.513G>C MANE Select	ENSP00000299427.6:p.Gly171=
ENST00000428886.7:n.748G>C
ENST00000436873.7:c.312+152G>C
ENST00000524788.2:n.1672G>C
ENST00000524903.2:n.1788G>C
ENST00000528807.2:n.169G>C
ENST00000530040.2:n.479+210G>C
ENST00000533371.6:c.-217G>C	ENSP00000437066.1:n.-217G>C
ENST00000534644.6:n.461G>C
ENST00000642892.1:c.-217G>C	ENSP00000494165.1:n.-217G>C
ENST00000643439.1:c.*253G>C	ENSP00000495849.1:n.*253G>C
ENST00000643479.1:n.542G>C
ENST00000643516.1:c.395+152G>C
ENST00000644151.1:n.1952G>C
ENST00000644218.1:c.513G>C	ENSP00000493574.1:p.Gly171=
ENST00000644683.1:c.455G>C	ENSP00000494085.1:p.Gly152Ala
ENST00000644810.1:c.234G>C	ENSP00000495895.1:p.Gly78=
ENST00000644831.1:n.689G>C
ENST00000644933.1:c.-217G>C	ENSP00000496133.1:n.-217G>C
ENST00000645020.1:n.1688G>C
ENST00000645285.1:c.-217G>C	ENSP00000495058.1:n.-217G>C
ENST00000645331.1:n.879G>C
ENST00000645620.1:c.-217G>C	ENSP00000493657.1:n.-217G>C
ENST00000646777.1:n.689G>C
ENST00000647016.1:n.993G>C
ENST00000647152.1:c.-217G>C	ENSP00000495893.1:n.-217G>C
ENST00000647209.1:c.*382G>C	ENSP00000495558.1:n.*382G>C
ENST00000647346.1:n.1533G>C
ENST00000299427.10:c.513G>C	ENSP00000299427.6:p.Gly171=
ENST00000428886.6:n.682G>C
ENST00000436873.6:c.450+210G>C	ENSP00000398136.2:n.450+210G>C
ENST00000524788.1:n.213G>C
ENST00000528571.5:c.*253G>C	ENSP00000434647.1:n.*253G>C
ENST00000528807.1:n.63G>C
ENST00000533371.5:c.-217G>C	ENSP00000437066.1:n.-217G>C
ENST00000534644.5:n.498G>C
ENST00000611494.4:c.513G>C	ENSP00000484546.1:p.Gly171=
NM_000391.3:c.513G>C	NP_000382.3:p.Gly171=
NM_000391.4:c.513G>C MANE Select	NP_000382.3:p.Gly171=