Canonical Allele Identifier: CA379474226

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637627G>C (hg19) ; chr11:g.6616396G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616396G>C , CM000673.2:g.6616396G>C	GRCh38
NC_000011.9:g.6637627G>C , CM000673.1:g.6637627G>C	GRCh37
NC_000011.8:g.6594203G>C	NCBI36
NG_008653.1:g.8066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.880C>G	ENSP00000507321.1:p.Leu294Val
ENST00000299427.12:c.994C>G MANE Select	ENSP00000299427.6:p.Leu332Val
ENST00000436873.7:c.313-322C>G
ENST00000533371.6:c.265C>G	ENSP00000437066.1:p.Leu89Val
ENST00000642892.1:c.265C>G	ENSP00000494165.1:p.Leu89Val
ENST00000643342.1:c.84C>G
ENST00000643439.1:c.*734C>G	ENSP00000495849.1:n.*734C>G
ENST00000643479.1:n.1180C>G
ENST00000643516.1:c.503C>G
ENST00000644218.1:c.886+265C>G	ENSP00000493574.1:n.886+265C>G
ENST00000644683.1:c.*447C>G	ENSP00000494085.1:n.*447C>G
ENST00000644810.1:c.715C>G	ENSP00000495895.1:p.Leu239Val
ENST00000644831.1:n.1170C>G
ENST00000644933.1:c.265C>G	ENSP00000496133.1:p.Leu89Val
ENST00000645285.1:c.157+265C>G	ENSP00000495058.1:n.157+265C>G
ENST00000645331.1:n.1517C>G
ENST00000645620.1:c.265C>G	ENSP00000493657.1:p.Leu89Val
ENST00000646691.1:n.87C>G
ENST00000646777.1:n.1327C>G
ENST00000647016.1:n.1474C>G
ENST00000647152.1:c.265C>G	ENSP00000495893.1:p.Leu89Val
ENST00000647209.1:c.*863C>G	ENSP00000495558.1:n.*863C>G
ENST00000647346.1:n.2014C>G
ENST00000299427.10:c.994C>G	ENSP00000299427.6:p.Leu332Val
ENST00000533371.5:c.265C>G	ENSP00000437066.1:p.Leu89Val
ENST00000611494.4:c.994C>G	ENSP00000484546.1:p.Leu332Val
NM_000391.3:c.994C>G	NP_000382.3:p.Leu332Val
NM_000391.4:c.994C>G MANE Select	NP_000382.3:p.Leu332Val