Canonical Allele Identifier: CA379472584

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636439C>T (hg19) ; chr11:g.6615208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615208C>T , CM000673.2:g.6615208C>T	GRCh38
NC_000011.9:g.6636439C>T , CM000673.1:g.6636439C>T	GRCh37
NC_000011.8:g.6593015C>T	NCBI36
NG_008653.1:g.9254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1274G>A	ENSP00000507321.1:p.Ser425Asn
ENST00000299427.12:c.1388G>A MANE Select	ENSP00000299427.6:p.Ser463Asn
ENST00000524611.2:n.248G>A
ENST00000524924.2:n.508G>A
ENST00000533371.6:c.659G>A	ENSP00000437066.1:p.Ser220Asn
ENST00000642892.1:c.659G>A	ENSP00000494165.1:p.Ser220Asn
ENST00000643342.1:c.461G>A
ENST00000643439.1:c.*1128G>A	ENSP00000495849.1:n.*1128G>A
ENST00000643479.1:n.1574G>A
ENST00000643516.1:c.897G>A
ENST00000644218.1:c.1199G>A	ENSP00000493574.1:p.Ser400Asn
ENST00000644683.1:c.*841G>A	ENSP00000494085.1:n.*841G>A
ENST00000644810.1:c.1109G>A	ENSP00000495895.1:p.Ser370Asn
ENST00000644831.1:n.1564G>A
ENST00000644933.1:c.*254G>A	ENSP00000496133.1:n.*254G>A
ENST00000645285.1:c.*254G>A	ENSP00000495058.1:n.*254G>A
ENST00000645331.1:n.2593G>A
ENST00000645620.1:c.659G>A	ENSP00000493657.1:p.Ser220Asn
ENST00000646691.1:n.1275G>A
ENST00000646777.1:n.1721G>A
ENST00000647016.1:n.1868G>A
ENST00000647152.1:c.659G>A	ENSP00000495893.1:p.Ser220Asn
ENST00000647209.1:c.*1257G>A	ENSP00000495558.1:n.*1257G>A
ENST00000647346.1:n.2408G>A
ENST00000299427.10:c.1388G>A	ENSP00000299427.6:p.Ser463Asn
ENST00000524611.1:n.266G>A
ENST00000533371.5:c.659G>A	ENSP00000437066.1:p.Ser220Asn
ENST00000611494.4:c.1388G>A	ENSP00000484546.1:p.Ser463Asn
NM_000391.3:c.1388G>A	NP_000382.3:p.Ser463Asn
NM_000391.4:c.1388G>A MANE Select	NP_000382.3:p.Ser463Asn