Canonical Allele Identifier: CA379472613

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636452A>G (hg19) ; chr11:g.6615221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615221A>G , CM000673.2:g.6615221A>G	GRCh38
NC_000011.9:g.6636452A>G , CM000673.1:g.6636452A>G	GRCh37
NC_000011.8:g.6593028A>G	NCBI36
NG_008653.1:g.9241T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1261T>C	ENSP00000507321.1:p.Tyr421His
ENST00000299427.12:c.1375T>C MANE Select	ENSP00000299427.6:p.Tyr459His
ENST00000524611.2:n.235T>C
ENST00000524924.2:n.495T>C
ENST00000533371.6:c.646T>C	ENSP00000437066.1:p.Tyr216His
ENST00000642892.1:c.646T>C	ENSP00000494165.1:p.Tyr216His
ENST00000643342.1:c.448T>C
ENST00000643439.1:c.*1115T>C	ENSP00000495849.1:n.*1115T>C
ENST00000643479.1:n.1561T>C
ENST00000643516.1:c.884T>C
ENST00000644218.1:c.1186T>C	ENSP00000493574.1:p.Tyr396His
ENST00000644683.1:c.*828T>C	ENSP00000494085.1:n.*828T>C
ENST00000644810.1:c.1096T>C	ENSP00000495895.1:p.Tyr366His
ENST00000644831.1:n.1551T>C
ENST00000644933.1:c.*241T>C	ENSP00000496133.1:n.*241T>C
ENST00000645285.1:c.*241T>C	ENSP00000495058.1:n.*241T>C
ENST00000645331.1:n.2580T>C
ENST00000645620.1:c.646T>C	ENSP00000493657.1:p.Tyr216His
ENST00000646691.1:n.1262T>C
ENST00000646777.1:n.1708T>C
ENST00000647016.1:n.1855T>C
ENST00000647152.1:c.646T>C	ENSP00000495893.1:p.Tyr216His
ENST00000647209.1:c.*1244T>C	ENSP00000495558.1:n.*1244T>C
ENST00000647346.1:n.2395T>C
ENST00000299427.10:c.1375T>C	ENSP00000299427.6:p.Tyr459His
ENST00000524611.1:n.253T>C
ENST00000532191.1:n.428T>C
ENST00000533371.5:c.646T>C	ENSP00000437066.1:p.Tyr216His
ENST00000611494.4:c.1375T>C	ENSP00000484546.1:p.Tyr459His
NM_000391.3:c.1375T>C	NP_000382.3:p.Tyr459His
NM_000391.4:c.1375T>C MANE Select	NP_000382.3:p.Tyr459His