Canonical Allele Identifier: CA379475738

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1379786
• ClinVar RCV Id: RCV001914934
• dbSNP Id: rs2134595606
• MyVariant Identifiers: chr11:g.6638562G>C (hg19) ; chr11:g.6617331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617331G>C , CM000673.2:g.6617331G>C	GRCh38
NC_000011.9:g.6638562G>C , CM000673.1:g.6638562G>C	GRCh37
NC_000011.8:g.6595138G>C	NCBI36
NG_008653.1:g.7131C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.364C>G	ENSP00000507321.1:p.Pro122Ala
ENST00000299427.12:c.478C>G MANE Select	ENSP00000299427.6:p.Pro160Ala
ENST00000428886.7:n.566C>G
ENST00000436873.7:c.282C>G
ENST00000524788.2:n.1490C>G
ENST00000524903.2:n.1606C>G
ENST00000528571.6:c.*218C>G	ENSP00000434647.1:n.*218C>G
ENST00000528807.2:n.134C>G
ENST00000530040.2:n.479+28C>G
ENST00000533371.6:c.-252C>G	ENSP00000437066.1:n.-252C>G
ENST00000534644.6:n.456+23C>G
ENST00000642892.1:c.-222+23C>G	ENSP00000494165.1:n.-222+23C>G
ENST00000643439.1:c.*218C>G	ENSP00000495849.1:n.*218C>G
ENST00000643479.1:n.507C>G
ENST00000643516.1:c.365C>G
ENST00000644151.1:n.1770C>G
ENST00000644218.1:c.478C>G	ENSP00000493574.1:p.Pro160Ala
ENST00000644683.1:c.450+28C>G	ENSP00000494085.1:n.450+28C>G
ENST00000644810.1:c.230-178C>G	ENSP00000495895.1:n.230-178C>G
ENST00000644831.1:n.507C>G
ENST00000644933.1:c.-252C>G	ENSP00000496133.1:n.-252C>G
ENST00000645020.1:n.1506C>G
ENST00000645285.1:c.-252C>G	ENSP00000495058.1:n.-252C>G
ENST00000645331.1:n.697C>G
ENST00000645620.1:c.-222+28C>G	ENSP00000493657.1:n.-222+28C>G
ENST00000646777.1:n.507C>G
ENST00000647016.1:n.811C>G
ENST00000647152.1:c.-252C>G	ENSP00000495893.1:n.-252C>G
ENST00000647209.1:c.*347C>G	ENSP00000495558.1:n.*347C>G
ENST00000647346.1:n.1498C>G
ENST00000299427.10:c.478C>G	ENSP00000299427.6:p.Pro160Ala
ENST00000428886.6:n.500C>G
ENST00000436873.6:c.450+28C>G	ENSP00000398136.2:n.450+28C>G
ENST00000524788.1:n.31C>G
ENST00000528571.5:c.*218C>G	ENSP00000434647.1:n.*218C>G
ENST00000533371.5:c.-252C>G	ENSP00000437066.1:n.-252C>G
ENST00000534644.5:n.463C>G
ENST00000611494.4:c.478C>G	ENSP00000484546.1:p.Pro160Ala
NM_000391.3:c.478C>G	NP_000382.3:p.Pro160Ala
NM_000391.4:c.478C>G MANE Select	NP_000382.3:p.Pro160Ala