Canonical Allele Identifier: CA379474135

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637596G>T (hg19) ; chr11:g.6616365G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616365G>T , CM000673.2:g.6616365G>T	GRCh38
NC_000011.9:g.6637596G>T , CM000673.1:g.6637596G>T	GRCh37
NC_000011.8:g.6594172G>T	NCBI36
NG_008653.1:g.8097C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.911C>A	ENSP00000507321.1:p.Thr304Asn
ENST00000299427.12:c.1025C>A MANE Select	ENSP00000299427.6:p.Thr342Asn
ENST00000436873.7:c.313-291C>A
ENST00000533371.6:c.296C>A	ENSP00000437066.1:p.Thr99Asn
ENST00000642892.1:c.296C>A	ENSP00000494165.1:p.Thr99Asn
ENST00000643342.1:c.115C>A
ENST00000643439.1:c.*765C>A	ENSP00000495849.1:n.*765C>A
ENST00000643479.1:n.1211C>A
ENST00000643516.1:c.534C>A
ENST00000644218.1:c.887-291C>A	ENSP00000493574.1:n.887-291C>A
ENST00000644683.1:c.*478C>A	ENSP00000494085.1:n.*478C>A
ENST00000644810.1:c.746C>A	ENSP00000495895.1:p.Thr249Asn
ENST00000644831.1:n.1201C>A
ENST00000644933.1:c.296C>A	ENSP00000496133.1:p.Thr99Asn
ENST00000645285.1:c.158-291C>A	ENSP00000495058.1:n.158-291C>A
ENST00000645331.1:n.1548C>A
ENST00000645620.1:c.296C>A	ENSP00000493657.1:p.Thr99Asn
ENST00000646691.1:n.118C>A
ENST00000646777.1:n.1358C>A
ENST00000647016.1:n.1505C>A
ENST00000647152.1:c.296C>A	ENSP00000495893.1:p.Thr99Asn
ENST00000647209.1:c.*894C>A	ENSP00000495558.1:n.*894C>A
ENST00000647346.1:n.2045C>A
ENST00000299427.10:c.1025C>A	ENSP00000299427.6:p.Thr342Asn
ENST00000533371.5:c.296C>A	ENSP00000437066.1:p.Thr99Asn
ENST00000611494.4:c.1025C>A	ENSP00000484546.1:p.Thr342Asn
NM_000391.3:c.1025C>A	NP_000382.3:p.Thr342Asn
NM_000391.4:c.1025C>A MANE Select	NP_000382.3:p.Thr342Asn