Canonical Allele Identifier: CA379476029

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638640G>A (hg19) ; chr11:g.6617409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617409G>A , CM000673.2:g.6617409G>A	GRCh38
NC_000011.9:g.6638640G>A , CM000673.1:g.6638640G>A	GRCh37
NC_000011.8:g.6595216G>A	NCBI36
NG_008653.1:g.7053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.286C>T	ENSP00000507321.1:p.Pro96Ser
ENST00000299427.12:c.400C>T MANE Select	ENSP00000299427.6:p.Pro134Ser
ENST00000428886.7:n.488C>T
ENST00000436873.7:c.204C>T
ENST00000524788.2:n.1412C>T
ENST00000524903.2:n.1528C>T
ENST00000528571.6:c.*140C>T	ENSP00000434647.1:n.*140C>T
ENST00000528807.2:n.56C>T
ENST00000530040.2:n.429C>T
ENST00000533371.6:c.-330C>T	ENSP00000437066.1:n.-330C>T
ENST00000534644.6:n.401C>T
ENST00000642892.1:c.-277C>T	ENSP00000494165.1:n.-277C>T
ENST00000643439.1:c.*140C>T	ENSP00000495849.1:n.*140C>T
ENST00000643479.1:n.429C>T
ENST00000643516.1:c.287C>T
ENST00000644151.1:n.1692C>T
ENST00000644218.1:c.400C>T	ENSP00000493574.1:p.Pro134Ser
ENST00000644683.1:c.400C>T	ENSP00000494085.1:p.Pro134Ser
ENST00000644810.1:c.230-256C>T	ENSP00000495895.1:n.230-256C>T
ENST00000644831.1:n.429C>T
ENST00000644933.1:c.-330C>T	ENSP00000496133.1:n.-330C>T
ENST00000645020.1:n.1428C>T
ENST00000645285.1:c.-330C>T	ENSP00000495058.1:n.-330C>T
ENST00000645331.1:n.619C>T
ENST00000645620.1:c.-272C>T	ENSP00000493657.1:n.-272C>T
ENST00000646777.1:n.429C>T
ENST00000647016.1:n.733C>T
ENST00000647152.1:c.-330C>T	ENSP00000495893.1:n.-330C>T
ENST00000647209.1:c.*269C>T	ENSP00000495558.1:n.*269C>T
ENST00000647346.1:n.1420C>T
ENST00000299427.10:c.400C>T	ENSP00000299427.6:p.Pro134Ser
ENST00000428886.6:n.422C>T
ENST00000436873.6:c.400C>T	ENSP00000398136.2:p.Pro134Ser
ENST00000528571.5:c.*140C>T	ENSP00000434647.1:n.*140C>T
ENST00000530040.1:n.512C>T
ENST00000533371.5:c.-330C>T	ENSP00000437066.1:n.-330C>T
ENST00000534644.5:n.385C>T
ENST00000611494.4:c.400C>T	ENSP00000484546.1:p.Pro134Ser
NM_000391.3:c.400C>T	NP_000382.3:p.Pro134Ser
NM_000391.4:c.400C>T MANE Select	NP_000382.3:p.Pro134Ser