Canonical Allele Identifier: CA379475375

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638240G>A (hg19) ; chr11:g.6617009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617009G>A , CM000673.2:g.6617009G>A	GRCh38
NC_000011.9:g.6638240G>A , CM000673.1:g.6638240G>A	GRCh37
NC_000011.8:g.6594816G>A	NCBI36
NG_008653.1:g.7453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.539C>T	ENSP00000507321.1:p.Ser180Phe
ENST00000299427.12:c.653C>T MANE Select	ENSP00000299427.6:p.Ser218Phe
ENST00000436873.7:c.312+292C>T
ENST00000524788.2:n.1812C>T
ENST00000524903.2:n.1928C>T
ENST00000528807.2:n.309C>T
ENST00000530040.2:n.479+350C>T
ENST00000533371.6:c.-77C>T	ENSP00000437066.1:n.-77C>T
ENST00000534644.6:n.601C>T
ENST00000642892.1:c.-77C>T	ENSP00000494165.1:n.-77C>T
ENST00000643439.1:c.*393C>T	ENSP00000495849.1:n.*393C>T
ENST00000643479.1:n.682C>T
ENST00000643516.1:c.395+292C>T
ENST00000644151.1:n.2092C>T
ENST00000644218.1:c.653C>T	ENSP00000493574.1:p.Ser218Phe
ENST00000644683.1:c.*106C>T	ENSP00000494085.1:n.*106C>T
ENST00000644810.1:c.374C>T	ENSP00000495895.1:p.Ser125Phe
ENST00000644831.1:n.829C>T
ENST00000644933.1:c.-77C>T	ENSP00000496133.1:n.-77C>T
ENST00000645020.1:n.1828C>T
ENST00000645285.1:c.-77C>T	ENSP00000495058.1:n.-77C>T
ENST00000645331.1:n.1019C>T
ENST00000645620.1:c.-77C>T	ENSP00000493657.1:n.-77C>T
ENST00000646777.1:n.829C>T
ENST00000647016.1:n.1133C>T
ENST00000647152.1:c.-77C>T	ENSP00000495893.1:n.-77C>T
ENST00000647209.1:c.*522C>T	ENSP00000495558.1:n.*522C>T
ENST00000647346.1:n.1673C>T
ENST00000299427.10:c.653C>T	ENSP00000299427.6:p.Ser218Phe
ENST00000428886.6:n.822C>T
ENST00000436873.6:c.450+350C>T	ENSP00000398136.2:n.450+350C>T
ENST00000524788.1:n.353C>T
ENST00000528571.5:c.*393C>T	ENSP00000434647.1:n.*393C>T
ENST00000528807.1:n.203C>T
ENST00000533371.5:c.-77C>T	ENSP00000437066.1:n.-77C>T
ENST00000611494.4:c.653C>T	ENSP00000484546.1:p.Ser218Phe
NM_000391.3:c.653C>T	NP_000382.3:p.Ser218Phe
NM_000391.4:c.653C>T MANE Select	NP_000382.3:p.Ser218Phe