Canonical Allele Identifier: CA379472592

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636443C>G (hg19) ; chr11:g.6615212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615212C>G , CM000673.2:g.6615212C>G	GRCh38
NC_000011.9:g.6636443C>G , CM000673.1:g.6636443C>G	GRCh37
NC_000011.8:g.6593019C>G	NCBI36
NG_008653.1:g.9250G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1270G>C	ENSP00000507321.1:p.Val424Leu
ENST00000299427.12:c.1384G>C MANE Select	ENSP00000299427.6:p.Val462Leu
ENST00000524611.2:n.244G>C
ENST00000524924.2:n.504G>C
ENST00000533371.6:c.655G>C	ENSP00000437066.1:p.Val219Leu
ENST00000642892.1:c.655G>C	ENSP00000494165.1:p.Val219Leu
ENST00000643342.1:c.457G>C
ENST00000643439.1:c.*1124G>C	ENSP00000495849.1:n.*1124G>C
ENST00000643479.1:n.1570G>C
ENST00000643516.1:c.893G>C
ENST00000644218.1:c.1195G>C	ENSP00000493574.1:p.Val399Leu
ENST00000644683.1:c.*837G>C	ENSP00000494085.1:n.*837G>C
ENST00000644810.1:c.1105G>C	ENSP00000495895.1:p.Val369Leu
ENST00000644831.1:n.1560G>C
ENST00000644933.1:c.*250G>C	ENSP00000496133.1:n.*250G>C
ENST00000645285.1:c.*250G>C	ENSP00000495058.1:n.*250G>C
ENST00000645331.1:n.2589G>C
ENST00000645620.1:c.655G>C	ENSP00000493657.1:p.Val219Leu
ENST00000646691.1:n.1271G>C
ENST00000646777.1:n.1717G>C
ENST00000647016.1:n.1864G>C
ENST00000647152.1:c.655G>C	ENSP00000495893.1:p.Val219Leu
ENST00000647209.1:c.*1253G>C	ENSP00000495558.1:n.*1253G>C
ENST00000647346.1:n.2404G>C
ENST00000299427.10:c.1384G>C	ENSP00000299427.6:p.Val462Leu
ENST00000524611.1:n.262G>C
ENST00000533371.5:c.655G>C	ENSP00000437066.1:p.Val219Leu
ENST00000611494.4:c.1384G>C	ENSP00000484546.1:p.Val462Leu
NM_000391.3:c.1384G>C	NP_000382.3:p.Val462Leu
NM_000391.4:c.1384G>C MANE Select	NP_000382.3:p.Val462Leu