Canonical Allele Identifier: CA379474453

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637675C>G (hg19) ; chr11:g.6616444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616444C>G , CM000673.2:g.6616444C>G	GRCh38
NC_000011.9:g.6637675C>G , CM000673.1:g.6637675C>G	GRCh37
NC_000011.8:g.6594251C>G	NCBI36
NG_008653.1:g.8018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.832G>C	ENSP00000507321.1:p.Ala278Pro
ENST00000299427.12:c.946G>C MANE Select	ENSP00000299427.6:p.Ala316Pro
ENST00000436873.7:c.313-370G>C
ENST00000530040.2:n.539G>C
ENST00000533371.6:c.217G>C	ENSP00000437066.1:p.Ala73Pro
ENST00000642892.1:c.217G>C	ENSP00000494165.1:p.Ala73Pro
ENST00000643342.1:c.36G>C
ENST00000643439.1:c.*686G>C	ENSP00000495849.1:n.*686G>C
ENST00000643479.1:n.1132G>C
ENST00000643516.1:c.455G>C
ENST00000644218.1:c.886+217G>C	ENSP00000493574.1:n.886+217G>C
ENST00000644683.1:c.*399G>C	ENSP00000494085.1:n.*399G>C
ENST00000644810.1:c.667G>C	ENSP00000495895.1:p.Ala223Pro
ENST00000644831.1:n.1122G>C
ENST00000644933.1:c.217G>C	ENSP00000496133.1:p.Ala73Pro
ENST00000645285.1:c.157+217G>C	ENSP00000495058.1:n.157+217G>C
ENST00000645331.1:n.1469G>C
ENST00000645620.1:c.217G>C	ENSP00000493657.1:p.Ala73Pro
ENST00000646691.1:n.39G>C
ENST00000646777.1:n.1279G>C
ENST00000647016.1:n.1426G>C
ENST00000647152.1:c.217G>C	ENSP00000495893.1:p.Ala73Pro
ENST00000647209.1:c.*815G>C	ENSP00000495558.1:n.*815G>C
ENST00000647346.1:n.1966G>C
ENST00000299427.10:c.946G>C	ENSP00000299427.6:p.Ala316Pro
ENST00000436873.6:c.510G>C	ENSP00000398136.2:p.Gln170His
ENST00000533371.5:c.217G>C	ENSP00000437066.1:p.Ala73Pro
ENST00000611494.4:c.946G>C	ENSP00000484546.1:p.Ala316Pro
NM_000391.3:c.946G>C	NP_000382.3:p.Ala316Pro
NM_000391.4:c.946G>C MANE Select	NP_000382.3:p.Ala316Pro