Canonical Allele Identifier: CA379472888

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636690G>C (hg19) ; chr11:g.6615459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615459G>C , CM000673.2:g.6615459G>C	GRCh38
NC_000011.9:g.6636690G>C , CM000673.1:g.6636690G>C	GRCh37
NC_000011.8:g.6593266G>C	NCBI36
NG_008653.1:g.9003C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1135C>G	ENSP00000507321.1:p.Pro379Ala
ENST00000299427.12:c.1249C>G MANE Select	ENSP00000299427.6:p.Pro417Ala
ENST00000436873.7:c.486C>G
ENST00000524924.2:n.369C>G
ENST00000533371.6:c.520C>G	ENSP00000437066.1:p.Pro174Ala
ENST00000642892.1:c.520C>G	ENSP00000494165.1:p.Pro174Ala
ENST00000643342.1:c.322C>G
ENST00000643439.1:c.*989C>G	ENSP00000495849.1:n.*989C>G
ENST00000643479.1:n.1435C>G
ENST00000643516.1:c.758C>G
ENST00000644218.1:c.1060C>G	ENSP00000493574.1:p.Pro354Ala
ENST00000644683.1:c.*702C>G	ENSP00000494085.1:n.*702C>G
ENST00000644810.1:c.970C>G	ENSP00000495895.1:p.Pro324Ala
ENST00000644831.1:n.1425C>G
ENST00000644933.1:c.*115C>G	ENSP00000496133.1:n.*115C>G
ENST00000645285.1:c.*115C>G	ENSP00000495058.1:n.*115C>G
ENST00000645331.1:n.2454C>G
ENST00000645620.1:c.520C>G	ENSP00000493657.1:p.Pro174Ala
ENST00000646691.1:n.1024C>G
ENST00000646777.1:n.1582C>G
ENST00000647016.1:n.1729C>G
ENST00000647152.1:c.520C>G	ENSP00000495893.1:p.Pro174Ala
ENST00000647209.1:c.*1118C>G	ENSP00000495558.1:n.*1118C>G
ENST00000647346.1:n.2269C>G
ENST00000299427.10:c.1249C>G	ENSP00000299427.6:p.Pro417Ala
ENST00000524611.1:n.15C>G
ENST00000524924.1:n.204C>G
ENST00000532191.1:n.302C>G
ENST00000533371.5:c.520C>G	ENSP00000437066.1:p.Pro174Ala
ENST00000611494.4:c.1249C>G	ENSP00000484546.1:p.Pro417Ala
NM_000391.3:c.1249C>G	NP_000382.3:p.Pro417Ala
NM_000391.4:c.1249C>G MANE Select	NP_000382.3:p.Pro417Ala