Canonical Allele Identifier: CA472772838

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637238G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616007G>T , CM000673.2:g.6616007G>T	GRCh38
NC_000011.9:g.6637238G>T , CM000673.1:g.6637238G>T	GRCh37
NC_000011.8:g.6593814G>T	NCBI36
NG_008653.1:g.8455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1029C>A	ENSP00000507321.1:p.Ser343=
ENST00000299427.12:c.1143C>A MANE Select	ENSP00000299427.6:p.Ser381=
ENST00000436873.7:c.380C>A
ENST00000524924.2:n.263C>A
ENST00000533371.6:c.414C>A	ENSP00000437066.1:p.Ser138=
ENST00000642892.1:c.414C>A	ENSP00000494165.1:p.Ser138=
ENST00000643342.1:c.233C>A
ENST00000643439.1:c.*883C>A	ENSP00000495849.1:n.*883C>A
ENST00000643479.1:n.1329C>A
ENST00000643516.1:c.652C>A
ENST00000644218.1:c.954C>A	ENSP00000493574.1:p.Ser318=
ENST00000644683.1:c.*596C>A	ENSP00000494085.1:n.*596C>A
ENST00000644810.1:c.864C>A	ENSP00000495895.1:p.Ser288=
ENST00000644831.1:n.1319C>A
ENST00000644933.1:c.414C>A	ENSP00000496133.1:p.Ser138=
ENST00000645285.1:c.225C>A	ENSP00000495058.1:p.Ser75=
ENST00000645331.1:n.1906C>A
ENST00000645620.1:c.414C>A	ENSP00000493657.1:p.Ser138=
ENST00000646691.1:n.476C>A
ENST00000646777.1:n.1476C>A
ENST00000647016.1:n.1623C>A
ENST00000647152.1:c.414C>A	ENSP00000495893.1:p.Ser138=
ENST00000647209.1:c.*1012C>A	ENSP00000495558.1:n.*1012C>A
ENST00000647346.1:n.2163C>A
ENST00000299427.10:c.1143C>A	ENSP00000299427.6:p.Ser381=
ENST00000524924.1:n.98C>A
ENST00000533371.5:c.414C>A	ENSP00000437066.1:p.Ser138=
ENST00000611494.4:c.1143C>A	ENSP00000484546.1:p.Ser381=
NM_000391.3:c.1143C>A	NP_000382.3:p.Ser381=
NM_000391.4:c.1143C>A MANE Select	NP_000382.3:p.Ser381=