Canonical Allele Identifier: CA379472869

Gene: TPP1

Linked Data

• dbSNP Id: rs1054736404
• MyVariant Identifiers: chr11:g.6636678A>T (hg19) ; chr11:g.6615447A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615447A>T , CM000673.2:g.6615447A>T	GRCh38
NC_000011.9:g.6636678A>T , CM000673.1:g.6636678A>T	GRCh37
NC_000011.8:g.6593254A>T	NCBI36
NG_008653.1:g.9015T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1147T>A	ENSP00000507321.1:p.Tyr383Asn
ENST00000299427.12:c.1261T>A MANE Select	ENSP00000299427.6:p.Tyr421Asn
ENST00000436873.7:c.498T>A
ENST00000524611.2:n.9T>A
ENST00000524924.2:n.381T>A
ENST00000533371.6:c.532T>A	ENSP00000437066.1:p.Tyr178Asn
ENST00000642892.1:c.532T>A	ENSP00000494165.1:p.Tyr178Asn
ENST00000643342.1:c.334T>A
ENST00000643439.1:c.*1001T>A	ENSP00000495849.1:n.*1001T>A
ENST00000643479.1:n.1447T>A
ENST00000643516.1:c.770T>A
ENST00000644218.1:c.1072T>A	ENSP00000493574.1:p.Tyr358Asn
ENST00000644683.1:c.*714T>A	ENSP00000494085.1:n.*714T>A
ENST00000644810.1:c.982T>A	ENSP00000495895.1:p.Tyr328Asn
ENST00000644831.1:n.1437T>A
ENST00000644933.1:c.*127T>A	ENSP00000496133.1:n.*127T>A
ENST00000645285.1:c.*127T>A	ENSP00000495058.1:n.*127T>A
ENST00000645331.1:n.2466T>A
ENST00000645620.1:c.532T>A	ENSP00000493657.1:p.Tyr178Asn
ENST00000646691.1:n.1036T>A
ENST00000646777.1:n.1594T>A
ENST00000647016.1:n.1741T>A
ENST00000647152.1:c.532T>A	ENSP00000495893.1:p.Tyr178Asn
ENST00000647209.1:c.*1130T>A	ENSP00000495558.1:n.*1130T>A
ENST00000647346.1:n.2281T>A
ENST00000299427.10:c.1261T>A	ENSP00000299427.6:p.Tyr421Asn
ENST00000524611.1:n.27T>A
ENST00000524924.1:n.216T>A
ENST00000532191.1:n.314T>A
ENST00000533371.5:c.532T>A	ENSP00000437066.1:p.Tyr178Asn
ENST00000611494.4:c.1261T>A	ENSP00000484546.1:p.Tyr421Asn
NM_000391.3:c.1261T>A	NP_000382.3:p.Tyr421Asn
NM_000391.4:c.1261T>A MANE Select	NP_000382.3:p.Tyr421Asn