Canonical Allele Identifier: CA379473106

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636765A>C (hg19) ; chr11:g.6615534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615534A>C , CM000673.2:g.6615534A>C	GRCh38
NC_000011.9:g.6636765A>C , CM000673.1:g.6636765A>C	GRCh37
NC_000011.8:g.6593341A>C	NCBI36
NG_008653.1:g.8928T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1060T>G	ENSP00000507321.1:p.Ser354Ala
ENST00000299427.12:c.1174T>G MANE Select	ENSP00000299427.6:p.Ser392Ala
ENST00000436873.7:c.411T>G
ENST00000524924.2:n.294T>G
ENST00000533371.6:c.445T>G	ENSP00000437066.1:p.Ser149Ala
ENST00000642892.1:c.445T>G	ENSP00000494165.1:p.Ser149Ala
ENST00000643342.1:c.247T>G
ENST00000643439.1:c.*914T>G	ENSP00000495849.1:n.*914T>G
ENST00000643479.1:n.1360T>G
ENST00000643516.1:c.683T>G
ENST00000644218.1:c.985T>G	ENSP00000493574.1:p.Ser329Ala
ENST00000644683.1:c.*627T>G	ENSP00000494085.1:n.*627T>G
ENST00000644810.1:c.895T>G	ENSP00000495895.1:p.Ser299Ala
ENST00000644831.1:n.1350T>G
ENST00000644933.1:c.*40T>G	ENSP00000496133.1:n.*40T>G
ENST00000645285.1:c.*40T>G	ENSP00000495058.1:n.*40T>G
ENST00000645331.1:n.2379T>G
ENST00000645620.1:c.445T>G	ENSP00000493657.1:p.Ser149Ala
ENST00000646691.1:n.949T>G
ENST00000646777.1:n.1507T>G
ENST00000647016.1:n.1654T>G
ENST00000647152.1:c.445T>G	ENSP00000495893.1:p.Ser149Ala
ENST00000647209.1:c.*1043T>G	ENSP00000495558.1:n.*1043T>G
ENST00000647346.1:n.2194T>G
ENST00000299427.10:c.1174T>G	ENSP00000299427.6:p.Ser392Ala
ENST00000524924.1:n.129T>G
ENST00000532191.1:n.227T>G
ENST00000533371.5:c.445T>G	ENSP00000437066.1:p.Ser149Ala
ENST00000611494.4:c.1174T>G	ENSP00000484546.1:p.Ser392Ala
NM_000391.3:c.1174T>G	NP_000382.3:p.Ser392Ala
NM_000391.4:c.1174T>G MANE Select	NP_000382.3:p.Ser392Ala