Canonical Allele Identifier: CA379472221

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635914T>A (hg19) ; chr11:g.6614683T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614683T>A , CM000673.2:g.6614683T>A	GRCh38
NC_000011.9:g.6635914T>A , CM000673.1:g.6635914T>A	GRCh37
NC_000011.8:g.6592490T>A	NCBI36
NG_008653.1:g.9779A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1441A>T	ENSP00000507321.1:p.Thr481Ser
ENST00000299427.12:c.1555A>T MANE Select	ENSP00000299427.6:p.Thr519Ser
ENST00000524611.2:n.594A>T
ENST00000524924.2:n.675A>T
ENST00000533371.6:c.826A>T	ENSP00000437066.1:p.Thr276Ser
ENST00000642892.1:c.826A>T	ENSP00000494165.1:p.Thr276Ser
ENST00000643342.1:c.628A>T
ENST00000643439.1:c.*1295A>T	ENSP00000495849.1:n.*1295A>T
ENST00000643479.1:n.1741A>T
ENST00000643516.1:c.1064A>T
ENST00000644218.1:c.1366A>T	ENSP00000493574.1:p.Thr456Ser
ENST00000644683.1:c.*1008A>T	ENSP00000494085.1:n.*1008A>T
ENST00000644810.1:c.1276A>T	ENSP00000495895.1:p.Thr426Ser
ENST00000644831.1:n.1731A>T
ENST00000644933.1:c.*421A>T	ENSP00000496133.1:n.*421A>T
ENST00000645285.1:c.*421A>T	ENSP00000495058.1:n.*421A>T
ENST00000645331.1:n.2760A>T
ENST00000645620.1:c.826A>T	ENSP00000493657.1:p.Thr276Ser
ENST00000646691.1:n.1442A>T
ENST00000646777.1:n.1888A>T
ENST00000647016.1:n.2035A>T
ENST00000647152.1:c.826A>T	ENSP00000495893.1:p.Thr276Ser
ENST00000647209.1:c.*1424A>T	ENSP00000495558.1:n.*1424A>T
ENST00000647346.1:n.2575A>T
ENST00000299427.10:c.1555A>T	ENSP00000299427.6:p.Thr519Ser
ENST00000524611.1:n.433A>T
ENST00000533371.5:c.826A>T	ENSP00000437066.1:p.Thr276Ser
ENST00000611494.4:c.1555A>T	ENSP00000484546.1:p.Thr519Ser
NM_000391.3:c.1555A>T	NP_000382.3:p.Thr519Ser
NM_000391.4:c.1555A>T MANE Select	NP_000382.3:p.Thr519Ser