Canonical Allele Identifier: CA379472978

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636731A>C (hg19) ; chr11:g.6615500A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615500A>C , CM000673.2:g.6615500A>C	GRCh38
NC_000011.9:g.6636731A>C , CM000673.1:g.6636731A>C	GRCh37
NC_000011.8:g.6593307A>C	NCBI36
NG_008653.1:g.8962T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1094T>G	ENSP00000507321.1:p.Ile365Ser
ENST00000299427.12:c.1208T>G MANE Select	ENSP00000299427.6:p.Ile403Ser
ENST00000436873.7:c.445T>G
ENST00000524924.2:n.328T>G
ENST00000533371.6:c.479T>G	ENSP00000437066.1:p.Ile160Ser
ENST00000642892.1:c.479T>G	ENSP00000494165.1:p.Ile160Ser
ENST00000643342.1:c.281T>G
ENST00000643439.1:c.*948T>G	ENSP00000495849.1:n.*948T>G
ENST00000643479.1:n.1394T>G
ENST00000643516.1:c.717T>G
ENST00000644218.1:c.1019T>G	ENSP00000493574.1:p.Ile340Ser
ENST00000644683.1:c.*661T>G	ENSP00000494085.1:n.*661T>G
ENST00000644810.1:c.929T>G	ENSP00000495895.1:p.Ile310Ser
ENST00000644831.1:n.1384T>G
ENST00000644933.1:c.*74T>G	ENSP00000496133.1:n.*74T>G
ENST00000645285.1:c.*74T>G	ENSP00000495058.1:n.*74T>G
ENST00000645331.1:n.2413T>G
ENST00000645620.1:c.479T>G	ENSP00000493657.1:p.Ile160Ser
ENST00000646691.1:n.983T>G
ENST00000646777.1:n.1541T>G
ENST00000647016.1:n.1688T>G
ENST00000647152.1:c.479T>G	ENSP00000495893.1:p.Ile160Ser
ENST00000647209.1:c.*1077T>G	ENSP00000495558.1:n.*1077T>G
ENST00000647346.1:n.2228T>G
ENST00000299427.10:c.1208T>G	ENSP00000299427.6:p.Ile403Ser
ENST00000524924.1:n.163T>G
ENST00000532191.1:n.261T>G
ENST00000533371.5:c.479T>G	ENSP00000437066.1:p.Ile160Ser
ENST00000611494.4:c.1208T>G	ENSP00000484546.1:p.Ile403Ser
NM_000391.3:c.1208T>G	NP_000382.3:p.Ile403Ser
NM_000391.4:c.1208T>G MANE Select	NP_000382.3:p.Ile403Ser