Canonical Allele Identifier: CA472922268

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636462A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615231A>G , CM000673.2:g.6615231A>G	GRCh38
NC_000011.9:g.6636462A>G , CM000673.1:g.6636462A>G	GRCh37
NC_000011.8:g.6593038A>G	NCBI36
NG_008653.1:g.9231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1251T>C	ENSP00000507321.1:p.Leu417=
ENST00000299427.12:c.1365T>C MANE Select	ENSP00000299427.6:p.Leu455=
ENST00000524611.2:n.225T>C
ENST00000524924.2:n.485T>C
ENST00000533371.6:c.636T>C	ENSP00000437066.1:p.Leu212=
ENST00000642892.1:c.636T>C	ENSP00000494165.1:p.Leu212=
ENST00000643342.1:c.438T>C
ENST00000643439.1:c.*1105T>C	ENSP00000495849.1:n.*1105T>C
ENST00000643479.1:n.1551T>C
ENST00000643516.1:c.874T>C
ENST00000644218.1:c.1176T>C	ENSP00000493574.1:p.Leu392=
ENST00000644683.1:c.*818T>C	ENSP00000494085.1:n.*818T>C
ENST00000644810.1:c.1086T>C	ENSP00000495895.1:p.Leu362=
ENST00000644831.1:n.1541T>C
ENST00000644933.1:c.*231T>C	ENSP00000496133.1:n.*231T>C
ENST00000645285.1:c.*231T>C	ENSP00000495058.1:n.*231T>C
ENST00000645331.1:n.2570T>C
ENST00000645620.1:c.636T>C	ENSP00000493657.1:p.Leu212=
ENST00000646691.1:n.1252T>C
ENST00000646777.1:n.1698T>C
ENST00000647016.1:n.1845T>C
ENST00000647152.1:c.636T>C	ENSP00000495893.1:p.Leu212=
ENST00000647209.1:c.*1234T>C	ENSP00000495558.1:n.*1234T>C
ENST00000647346.1:n.2385T>C
ENST00000299427.10:c.1365T>C	ENSP00000299427.6:p.Leu455=
ENST00000524611.1:n.243T>C
ENST00000532191.1:n.418T>C
ENST00000533371.5:c.636T>C	ENSP00000437066.1:p.Leu212=
ENST00000611494.4:c.1365T>C	ENSP00000484546.1:p.Leu455=
NM_000391.3:c.1365T>C	NP_000382.3:p.Leu455=
NM_000391.4:c.1365T>C MANE Select	NP_000382.3:p.Leu455=