Canonical Allele Identifier: CA379473003

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636738T>A (hg19) ; chr11:g.6615507T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615507T>A , CM000673.2:g.6615507T>A	GRCh38
NC_000011.9:g.6636738T>A , CM000673.1:g.6636738T>A	GRCh37
NC_000011.8:g.6593314T>A	NCBI36
NG_008653.1:g.8955A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1087A>T	ENSP00000507321.1:p.Asn363Tyr
ENST00000299427.12:c.1201A>T MANE Select	ENSP00000299427.6:p.Asn401Tyr
ENST00000436873.7:c.438A>T
ENST00000524924.2:n.321A>T
ENST00000533371.6:c.472A>T	ENSP00000437066.1:p.Asn158Tyr
ENST00000642892.1:c.472A>T	ENSP00000494165.1:p.Asn158Tyr
ENST00000643342.1:c.274A>T
ENST00000643439.1:c.*941A>T	ENSP00000495849.1:n.*941A>T
ENST00000643479.1:n.1387A>T
ENST00000643516.1:c.710A>T
ENST00000644218.1:c.1012A>T	ENSP00000493574.1:p.Asn338Tyr
ENST00000644683.1:c.*654A>T	ENSP00000494085.1:n.*654A>T
ENST00000644810.1:c.922A>T	ENSP00000495895.1:p.Asn308Tyr
ENST00000644831.1:n.1377A>T
ENST00000644933.1:c.*67A>T	ENSP00000496133.1:n.*67A>T
ENST00000645285.1:c.*67A>T	ENSP00000495058.1:n.*67A>T
ENST00000645331.1:n.2406A>T
ENST00000645620.1:c.472A>T	ENSP00000493657.1:p.Asn158Tyr
ENST00000646691.1:n.976A>T
ENST00000646777.1:n.1534A>T
ENST00000647016.1:n.1681A>T
ENST00000647152.1:c.472A>T	ENSP00000495893.1:p.Asn158Tyr
ENST00000647209.1:c.*1070A>T	ENSP00000495558.1:n.*1070A>T
ENST00000647346.1:n.2221A>T
ENST00000299427.10:c.1201A>T	ENSP00000299427.6:p.Asn401Tyr
ENST00000524924.1:n.156A>T
ENST00000532191.1:n.254A>T
ENST00000533371.5:c.472A>T	ENSP00000437066.1:p.Asn158Tyr
ENST00000611494.4:c.1201A>T	ENSP00000484546.1:p.Asn401Tyr
NM_000391.3:c.1201A>T	NP_000382.3:p.Asn401Tyr
NM_000391.4:c.1201A>T MANE Select	NP_000382.3:p.Asn401Tyr