Canonical Allele Identifier: CA379472581

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636438G>C (hg19) ; chr11:g.6615207G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615207G>C , CM000673.2:g.6615207G>C	GRCh38
NC_000011.9:g.6636438G>C , CM000673.1:g.6636438G>C	GRCh37
NC_000011.8:g.6593014G>C	NCBI36
NG_008653.1:g.9255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1275C>G	ENSP00000507321.1:p.Ser425Arg
ENST00000299427.12:c.1389C>G MANE Select	ENSP00000299427.6:p.Ser463Arg
ENST00000524611.2:n.249C>G
ENST00000524924.2:n.509C>G
ENST00000533371.6:c.660C>G	ENSP00000437066.1:p.Ser220Arg
ENST00000642892.1:c.660C>G	ENSP00000494165.1:p.Ser220Arg
ENST00000643342.1:c.462C>G
ENST00000643439.1:c.*1129C>G	ENSP00000495849.1:n.*1129C>G
ENST00000643479.1:n.1575C>G
ENST00000643516.1:c.898C>G
ENST00000644218.1:c.1200C>G	ENSP00000493574.1:p.Ser400Arg
ENST00000644683.1:c.*842C>G	ENSP00000494085.1:n.*842C>G
ENST00000644810.1:c.1110C>G	ENSP00000495895.1:p.Ser370Arg
ENST00000644831.1:n.1565C>G
ENST00000644933.1:c.*255C>G	ENSP00000496133.1:n.*255C>G
ENST00000645285.1:c.*255C>G	ENSP00000495058.1:n.*255C>G
ENST00000645331.1:n.2594C>G
ENST00000645620.1:c.660C>G	ENSP00000493657.1:p.Ser220Arg
ENST00000646691.1:n.1276C>G
ENST00000646777.1:n.1722C>G
ENST00000647016.1:n.1869C>G
ENST00000647152.1:c.660C>G	ENSP00000495893.1:p.Ser220Arg
ENST00000647209.1:c.*1258C>G	ENSP00000495558.1:n.*1258C>G
ENST00000647346.1:n.2409C>G
ENST00000299427.10:c.1389C>G	ENSP00000299427.6:p.Ser463Arg
ENST00000524611.1:n.267C>G
ENST00000533371.5:c.660C>G	ENSP00000437066.1:p.Ser220Arg
ENST00000611494.4:c.1389C>G	ENSP00000484546.1:p.Ser463Arg
NM_000391.3:c.1389C>G	NP_000382.3:p.Ser463Arg
NM_000391.4:c.1389C>G MANE Select	NP_000382.3:p.Ser463Arg