Canonical Allele Identifier: CA472770910

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2761790
• ClinVar RCV Id: RCV003567806
• MyVariant Identifiers: chr11:g.6636510G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615279G>C , CM000673.2:g.6615279G>C	GRCh38
NC_000011.9:g.6636510G>C , CM000673.1:g.6636510G>C	GRCh37
NC_000011.8:g.6593086G>C	NCBI36
NG_008653.1:g.9183C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1203C>G	ENSP00000507321.1:p.Ser401=
ENST00000299427.12:c.1317C>G MANE Select	ENSP00000299427.6:p.Ser439=
ENST00000524611.2:n.177C>G
ENST00000524924.2:n.437C>G
ENST00000533371.6:c.588C>G	ENSP00000437066.1:p.Ser196=
ENST00000642892.1:c.588C>G	ENSP00000494165.1:p.Ser196=
ENST00000643342.1:c.390C>G
ENST00000643439.1:c.*1057C>G	ENSP00000495849.1:n.*1057C>G
ENST00000643479.1:n.1503C>G
ENST00000643516.1:c.826C>G
ENST00000644218.1:c.1128C>G	ENSP00000493574.1:p.Ser376=
ENST00000644683.1:c.*770C>G	ENSP00000494085.1:n.*770C>G
ENST00000644810.1:c.1038C>G	ENSP00000495895.1:p.Ser346=
ENST00000644831.1:n.1493C>G
ENST00000644933.1:c.*183C>G	ENSP00000496133.1:n.*183C>G
ENST00000645285.1:c.*183C>G	ENSP00000495058.1:n.*183C>G
ENST00000645331.1:n.2522C>G
ENST00000645620.1:c.588C>G	ENSP00000493657.1:p.Ser196=
ENST00000646691.1:n.1204C>G
ENST00000646777.1:n.1650C>G
ENST00000647016.1:n.1797C>G
ENST00000647152.1:c.588C>G	ENSP00000495893.1:p.Ser196=
ENST00000647209.1:c.*1186C>G	ENSP00000495558.1:n.*1186C>G
ENST00000647346.1:n.2337C>G
ENST00000299427.10:c.1317C>G	ENSP00000299427.6:p.Ser439=
ENST00000524611.1:n.195C>G
ENST00000524924.1:n.272C>G
ENST00000532191.1:n.370C>G
ENST00000533371.5:c.588C>G	ENSP00000437066.1:p.Ser196=
ENST00000611494.4:c.1317C>G	ENSP00000484546.1:p.Ser439=
NM_000391.3:c.1317C>G	NP_000382.3:p.Ser439=
NM_000391.4:c.1317C>G MANE Select	NP_000382.3:p.Ser439=