Canonical Allele Identifier: CA379471975

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635804A>T (hg19) ; chr11:g.6614573A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614573A>T , CM000673.2:g.6614573A>T	GRCh38
NC_000011.9:g.6635804A>T , CM000673.1:g.6635804A>T	GRCh37
NC_000011.8:g.6592380A>T	NCBI36
NG_008653.1:g.9889T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1551T>A	ENSP00000507321.1:p.Ala517=
ENST00000299427.12:c.1665T>A MANE Select	ENSP00000299427.6:p.Ala555=
ENST00000524611.2:n.704T>A
ENST00000533371.6:c.936T>A	ENSP00000437066.1:p.Ala312=
ENST00000642892.1:c.936T>A	ENSP00000494165.1:p.Ala312=
ENST00000643342.1:c.738T>A
ENST00000643439.1:c.*1405T>A	ENSP00000495849.1:n.*1405T>A
ENST00000643479.1:n.1851T>A
ENST00000643516.1:c.1174T>A
ENST00000644218.1:c.1476T>A	ENSP00000493574.1:p.Ala492=
ENST00000644683.1:c.*1118T>A	ENSP00000494085.1:n.*1118T>A
ENST00000644810.1:c.1386T>A	ENSP00000495895.1:p.Ala462=
ENST00000644831.1:n.1841T>A
ENST00000644933.1:c.*531T>A	ENSP00000496133.1:n.*531T>A
ENST00000645285.1:c.*531T>A	ENSP00000495058.1:n.*531T>A
ENST00000645331.1:n.2870T>A
ENST00000645620.1:c.936T>A	ENSP00000493657.1:p.Ala312=
ENST00000646691.1:n.1552T>A
ENST00000646777.1:n.1998T>A
ENST00000647016.1:n.2145T>A
ENST00000647152.1:c.936T>A	ENSP00000495893.1:p.Ala312=
ENST00000647209.1:c.*1534T>A	ENSP00000495558.1:n.*1534T>A
ENST00000647346.1:n.2685T>A
ENST00000299427.10:c.1665T>A	ENSP00000299427.6:p.Ala555=
ENST00000533371.5:c.936T>A	ENSP00000437066.1:p.Ala312=
ENST00000611494.4:c.1664T>A	ENSP00000484546.1:p.Leu555His
NM_000391.3:c.1665T>A	NP_000382.3:p.Ala555=
NM_000391.4:c.1665T>A MANE Select	NP_000382.3:p.Ala555=