Canonical Allele Identifier: CA379471984

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635808G>A (hg19) ; chr11:g.6614577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614577G>A , CM000673.2:g.6614577G>A	GRCh38
NC_000011.9:g.6635808G>A , CM000673.1:g.6635808G>A	GRCh37
NC_000011.8:g.6592384G>A	NCBI36
NG_008653.1:g.9885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1547C>T	ENSP00000507321.1:p.Pro516Leu
ENST00000299427.12:c.1661C>T MANE Select	ENSP00000299427.6:p.Pro554Leu
ENST00000524611.2:n.700C>T
ENST00000533371.6:c.932C>T	ENSP00000437066.1:p.Pro311Leu
ENST00000642892.1:c.932C>T	ENSP00000494165.1:p.Pro311Leu
ENST00000643342.1:c.734C>T
ENST00000643439.1:c.*1401C>T	ENSP00000495849.1:n.*1401C>T
ENST00000643479.1:n.1847C>T
ENST00000643516.1:c.1170C>T
ENST00000644218.1:c.1472C>T	ENSP00000493574.1:p.Pro491Leu
ENST00000644683.1:c.*1114C>T	ENSP00000494085.1:n.*1114C>T
ENST00000644810.1:c.1382C>T	ENSP00000495895.1:p.Pro461Leu
ENST00000644831.1:n.1837C>T
ENST00000644933.1:c.*527C>T	ENSP00000496133.1:n.*527C>T
ENST00000645285.1:c.*527C>T	ENSP00000495058.1:n.*527C>T
ENST00000645331.1:n.2866C>T
ENST00000645620.1:c.932C>T	ENSP00000493657.1:p.Pro311Leu
ENST00000646691.1:n.1548C>T
ENST00000646777.1:n.1994C>T
ENST00000647016.1:n.2141C>T
ENST00000647152.1:c.932C>T	ENSP00000495893.1:p.Pro311Leu
ENST00000647209.1:c.*1530C>T	ENSP00000495558.1:n.*1530C>T
ENST00000647346.1:n.2681C>T
ENST00000299427.10:c.1661C>T	ENSP00000299427.6:p.Pro554Leu
ENST00000533371.5:c.932C>T	ENSP00000437066.1:p.Pro311Leu
ENST00000611494.4:c.1660C>T	ENSP00000484546.1:p.Gln554Ter
NM_000391.3:c.1661C>T	NP_000382.3:p.Pro554Leu
NM_000391.4:c.1661C>T MANE Select	NP_000382.3:p.Pro554Leu