Canonical Allele Identifier: CA379475113

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638015C>T (hg19) ; chr11:g.6616784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616784C>T , CM000673.2:g.6616784C>T	GRCh38
NC_000011.9:g.6638015C>T , CM000673.1:g.6638015C>T	GRCh37
NC_000011.8:g.6594591C>T	NCBI36
NG_008653.1:g.7678G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.649G>A	ENSP00000507321.1:p.Ala217Thr
ENST00000299427.12:c.763G>A MANE Select	ENSP00000299427.6:p.Ala255Thr
ENST00000436873.7:c.312+517G>A
ENST00000524788.2:n.1922G>A
ENST00000524903.2:n.2038G>A
ENST00000528807.2:n.419G>A
ENST00000530040.2:n.480-281G>A
ENST00000533371.6:c.34G>A	ENSP00000437066.1:p.Ala12Thr
ENST00000642892.1:c.34G>A	ENSP00000494165.1:p.Ala12Thr
ENST00000643439.1:c.*503G>A	ENSP00000495849.1:n.*503G>A
ENST00000643479.1:n.792G>A
ENST00000643516.1:c.396-281G>A
ENST00000644151.1:n.2202G>A
ENST00000644218.1:c.763G>A	ENSP00000493574.1:p.Ala255Thr
ENST00000644683.1:c.*216G>A	ENSP00000494085.1:n.*216G>A
ENST00000644810.1:c.484G>A	ENSP00000495895.1:p.Ala162Thr
ENST00000644831.1:n.939G>A
ENST00000644933.1:c.34G>A	ENSP00000496133.1:p.Ala12Thr
ENST00000645020.1:n.2053G>A
ENST00000645285.1:c.34G>A	ENSP00000495058.1:p.Ala12Thr
ENST00000645331.1:n.1129G>A
ENST00000645620.1:c.34G>A	ENSP00000493657.1:p.Ala12Thr
ENST00000646777.1:n.939G>A
ENST00000647016.1:n.1243G>A
ENST00000647152.1:c.34G>A	ENSP00000495893.1:p.Ala12Thr
ENST00000647209.1:c.*632G>A	ENSP00000495558.1:n.*632G>A
ENST00000647346.1:n.1783G>A
ENST00000299427.10:c.763G>A	ENSP00000299427.6:p.Ala255Thr
ENST00000436873.6:c.451-281G>A	ENSP00000398136.2:n.451-281G>A
ENST00000524788.1:n.463G>A
ENST00000528807.1:n.313G>A
ENST00000533371.5:c.34G>A	ENSP00000437066.1:p.Ala12Thr
ENST00000611494.4:c.763G>A	ENSP00000484546.1:p.Ala255Thr
NM_000391.3:c.763G>A	NP_000382.3:p.Ala255Thr
NM_000391.4:c.763G>A MANE Select	NP_000382.3:p.Ala255Thr