Canonical Allele Identifier: CA379473001

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1087A>C	ENSP00000507321.1:p.Asn363His
ENST00000299427.12:c.1201A>C MANE Select	ENSP00000299427.6:p.Asn401His
ENST00000436873.7:c.438A>C
ENST00000524924.2:n.321A>C
ENST00000533371.6:c.472A>C	ENSP00000437066.1:p.Asn158His
ENST00000642892.1:c.472A>C	ENSP00000494165.1:p.Asn158His
ENST00000643342.1:c.274A>C
ENST00000643439.1:c.*941A>C	ENSP00000495849.1:n.*941A>C
ENST00000643479.1:n.1387A>C
ENST00000643516.1:c.710A>C
ENST00000644218.1:c.1012A>C	ENSP00000493574.1:p.Asn338His
ENST00000644683.1:c.*654A>C	ENSP00000494085.1:n.*654A>C
ENST00000644810.1:c.922A>C	ENSP00000495895.1:p.Asn308His
ENST00000644831.1:n.1377A>C
ENST00000644933.1:c.*67A>C	ENSP00000496133.1:n.*67A>C
ENST00000645285.1:c.*67A>C	ENSP00000495058.1:n.*67A>C
ENST00000645331.1:n.2406A>C
ENST00000645620.1:c.472A>C	ENSP00000493657.1:p.Asn158His
ENST00000646691.1:n.976A>C
ENST00000646777.1:n.1534A>C
ENST00000647016.1:n.1681A>C
ENST00000647152.1:c.472A>C	ENSP00000495893.1:p.Asn158His
ENST00000647209.1:c.*1070A>C	ENSP00000495558.1:n.*1070A>C
ENST00000647346.1:n.2221A>C
ENST00000299427.10:c.1201A>C	ENSP00000299427.6:p.Asn401His
ENST00000524924.1:n.156A>C
ENST00000532191.1:n.254A>C
ENST00000533371.5:c.472A>C	ENSP00000437066.1:p.Asn158His
ENST00000611494.4:c.1201A>C	ENSP00000484546.1:p.Asn401His
NM_000391.3:c.1201A>C	NP_000382.3:p.Asn401His
NM_000391.4:c.1201A>C MANE Select	NP_000382.3:p.Asn401His