Canonical Allele Identifier: CA379472523

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636412G>A (hg19) ; chr11:g.6615181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615181G>A , CM000673.2:g.6615181G>A	GRCh38
NC_000011.9:g.6636412G>A , CM000673.1:g.6636412G>A	GRCh37
NC_000011.8:g.6592988G>A	NCBI36
NG_008653.1:g.9281C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1301C>T	ENSP00000507321.1:p.Ser434Phe
ENST00000299427.12:c.1415C>T MANE Select	ENSP00000299427.6:p.Ser472Phe
ENST00000524611.2:n.275C>T
ENST00000524924.2:n.535C>T
ENST00000533371.6:c.686C>T	ENSP00000437066.1:p.Ser229Phe
ENST00000642892.1:c.686C>T	ENSP00000494165.1:p.Ser229Phe
ENST00000643342.1:c.488C>T
ENST00000643439.1:c.*1155C>T	ENSP00000495849.1:n.*1155C>T
ENST00000643479.1:n.1601C>T
ENST00000643516.1:c.924C>T
ENST00000644218.1:c.1226C>T	ENSP00000493574.1:p.Ser409Phe
ENST00000644683.1:c.*868C>T	ENSP00000494085.1:n.*868C>T
ENST00000644810.1:c.1136C>T	ENSP00000495895.1:p.Ser379Phe
ENST00000644831.1:n.1591C>T
ENST00000644933.1:c.*281C>T	ENSP00000496133.1:n.*281C>T
ENST00000645285.1:c.*281C>T	ENSP00000495058.1:n.*281C>T
ENST00000645331.1:n.2620C>T
ENST00000645620.1:c.686C>T	ENSP00000493657.1:p.Ser229Phe
ENST00000646691.1:n.1302C>T
ENST00000646777.1:n.1748C>T
ENST00000647016.1:n.1895C>T
ENST00000647152.1:c.686C>T	ENSP00000495893.1:p.Ser229Phe
ENST00000647209.1:c.*1284C>T	ENSP00000495558.1:n.*1284C>T
ENST00000647346.1:n.2435C>T
ENST00000299427.10:c.1415C>T	ENSP00000299427.6:p.Ser472Phe
ENST00000524611.1:n.293C>T
ENST00000533371.5:c.686C>T	ENSP00000437066.1:p.Ser229Phe
ENST00000611494.4:c.1415C>T	ENSP00000484546.1:p.Ser472Phe
NM_000391.3:c.1415C>T	NP_000382.3:p.Ser472Phe
NM_000391.4:c.1415C>T MANE Select	NP_000382.3:p.Ser472Phe