Canonical Allele Identifier: CA379472673

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636480G>T (hg19) ; chr11:g.6615249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615249G>T , CM000673.2:g.6615249G>T	GRCh38
NC_000011.9:g.6636480G>T , CM000673.1:g.6636480G>T	GRCh37
NC_000011.8:g.6593056G>T	NCBI36
NG_008653.1:g.9213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1233C>A	ENSP00000507321.1:p.Tyr411Ter
ENST00000299427.12:c.1347C>A MANE Select	ENSP00000299427.6:p.Tyr449Ter
ENST00000524611.2:n.207C>A
ENST00000524924.2:n.467C>A
ENST00000533371.6:c.618C>A	ENSP00000437066.1:p.Tyr206Ter
ENST00000642892.1:c.618C>A	ENSP00000494165.1:p.Tyr206Ter
ENST00000643342.1:c.420C>A
ENST00000643439.1:c.*1087C>A	ENSP00000495849.1:n.*1087C>A
ENST00000643479.1:n.1533C>A
ENST00000643516.1:c.856C>A
ENST00000644218.1:c.1158C>A	ENSP00000493574.1:p.Tyr386Ter
ENST00000644683.1:c.*800C>A	ENSP00000494085.1:n.*800C>A
ENST00000644810.1:c.1068C>A	ENSP00000495895.1:p.Tyr356Ter
ENST00000644831.1:n.1523C>A
ENST00000644933.1:c.*213C>A	ENSP00000496133.1:n.*213C>A
ENST00000645285.1:c.*213C>A	ENSP00000495058.1:n.*213C>A
ENST00000645331.1:n.2552C>A
ENST00000645620.1:c.618C>A	ENSP00000493657.1:p.Tyr206Ter
ENST00000646691.1:n.1234C>A
ENST00000646777.1:n.1680C>A
ENST00000647016.1:n.1827C>A
ENST00000647152.1:c.618C>A	ENSP00000495893.1:p.Tyr206Ter
ENST00000647209.1:c.*1216C>A	ENSP00000495558.1:n.*1216C>A
ENST00000647346.1:n.2367C>A
ENST00000299427.10:c.1347C>A	ENSP00000299427.6:p.Tyr449Ter
ENST00000524611.1:n.225C>A
ENST00000532191.1:n.400C>A
ENST00000533371.5:c.618C>A	ENSP00000437066.1:p.Tyr206Ter
ENST00000611494.4:c.1347C>A	ENSP00000484546.1:p.Tyr449Ter
NM_000391.3:c.1347C>A	NP_000382.3:p.Tyr449Ter
NM_000391.4:c.1347C>A MANE Select	NP_000382.3:p.Tyr449Ter