Canonical Allele Identifier: CA379472544

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636421G>A (hg19) ; chr11:g.6615190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615190G>A , CM000673.2:g.6615190G>A	GRCh38
NC_000011.9:g.6636421G>A , CM000673.1:g.6636421G>A	GRCh37
NC_000011.8:g.6592997G>A	NCBI36
NG_008653.1:g.9272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1292C>T	ENSP00000507321.1:p.Pro431Leu
ENST00000299427.12:c.1406C>T MANE Select	ENSP00000299427.6:p.Pro469Leu
ENST00000524611.2:n.266C>T
ENST00000524924.2:n.526C>T
ENST00000533371.6:c.677C>T	ENSP00000437066.1:p.Pro226Leu
ENST00000642892.1:c.677C>T	ENSP00000494165.1:p.Pro226Leu
ENST00000643342.1:c.479C>T
ENST00000643439.1:c.*1146C>T	ENSP00000495849.1:n.*1146C>T
ENST00000643479.1:n.1592C>T
ENST00000643516.1:c.915C>T
ENST00000644218.1:c.1217C>T	ENSP00000493574.1:p.Pro406Leu
ENST00000644683.1:c.*859C>T	ENSP00000494085.1:n.*859C>T
ENST00000644810.1:c.1127C>T	ENSP00000495895.1:p.Pro376Leu
ENST00000644831.1:n.1582C>T
ENST00000644933.1:c.*272C>T	ENSP00000496133.1:n.*272C>T
ENST00000645285.1:c.*272C>T	ENSP00000495058.1:n.*272C>T
ENST00000645331.1:n.2611C>T
ENST00000645620.1:c.677C>T	ENSP00000493657.1:p.Pro226Leu
ENST00000646691.1:n.1293C>T
ENST00000646777.1:n.1739C>T
ENST00000647016.1:n.1886C>T
ENST00000647152.1:c.677C>T	ENSP00000495893.1:p.Pro226Leu
ENST00000647209.1:c.*1275C>T	ENSP00000495558.1:n.*1275C>T
ENST00000647346.1:n.2426C>T
ENST00000299427.10:c.1406C>T	ENSP00000299427.6:p.Pro469Leu
ENST00000524611.1:n.284C>T
ENST00000533371.5:c.677C>T	ENSP00000437066.1:p.Pro226Leu
ENST00000611494.4:c.1406C>T	ENSP00000484546.1:p.Pro469Leu
NM_000391.3:c.1406C>T	NP_000382.3:p.Pro469Leu
NM_000391.4:c.1406C>T MANE Select	NP_000382.3:p.Pro469Leu