Canonical Allele Identifier: CA379472912

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636701C>G (hg19) ; chr11:g.6615470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615470C>G , CM000673.2:g.6615470C>G	GRCh38
NC_000011.9:g.6636701C>G , CM000673.1:g.6636701C>G	GRCh37
NC_000011.8:g.6593277C>G	NCBI36
NG_008653.1:g.8992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1124G>C	ENSP00000507321.1:p.Ser375Thr
ENST00000299427.12:c.1238G>C MANE Select	ENSP00000299427.6:p.Ser413Thr
ENST00000436873.7:c.475G>C
ENST00000524924.2:n.358G>C
ENST00000533371.6:c.509G>C	ENSP00000437066.1:p.Ser170Thr
ENST00000642892.1:c.509G>C	ENSP00000494165.1:p.Ser170Thr
ENST00000643342.1:c.311G>C
ENST00000643439.1:c.*978G>C	ENSP00000495849.1:n.*978G>C
ENST00000643479.1:n.1424G>C
ENST00000643516.1:c.747G>C
ENST00000644218.1:c.1049G>C	ENSP00000493574.1:p.Ser350Thr
ENST00000644683.1:c.*691G>C	ENSP00000494085.1:n.*691G>C
ENST00000644810.1:c.959G>C	ENSP00000495895.1:p.Ser320Thr
ENST00000644831.1:n.1414G>C
ENST00000644933.1:c.*104G>C	ENSP00000496133.1:n.*104G>C
ENST00000645285.1:c.*104G>C	ENSP00000495058.1:n.*104G>C
ENST00000645331.1:n.2443G>C
ENST00000645620.1:c.509G>C	ENSP00000493657.1:p.Ser170Thr
ENST00000646691.1:n.1013G>C
ENST00000646777.1:n.1571G>C
ENST00000647016.1:n.1718G>C
ENST00000647152.1:c.509G>C	ENSP00000495893.1:p.Ser170Thr
ENST00000647209.1:c.*1107G>C	ENSP00000495558.1:n.*1107G>C
ENST00000647346.1:n.2258G>C
ENST00000299427.10:c.1238G>C	ENSP00000299427.6:p.Ser413Thr
ENST00000524611.1:n.4G>C
ENST00000524924.1:n.193G>C
ENST00000532191.1:n.291G>C
ENST00000533371.5:c.509G>C	ENSP00000437066.1:p.Ser170Thr
ENST00000611494.4:c.1238G>C	ENSP00000484546.1:p.Ser413Thr
NM_000391.3:c.1238G>C	NP_000382.3:p.Ser413Thr
NM_000391.4:c.1238G>C MANE Select	NP_000382.3:p.Ser413Thr