Canonical Allele Identifier: CA472922231

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636408T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615177T>G , CM000673.2:g.6615177T>G	GRCh38
NC_000011.9:g.6636408T>G , CM000673.1:g.6636408T>G	GRCh37
NC_000011.8:g.6592984T>G	NCBI36
NG_008653.1:g.9285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1305A>C	ENSP00000507321.1:p.Gly435=
ENST00000299427.12:c.1419A>C MANE Select	ENSP00000299427.6:p.Gly473=
ENST00000524611.2:n.279A>C
ENST00000524924.2:n.539A>C
ENST00000533371.6:c.690A>C	ENSP00000437066.1:p.Gly230=
ENST00000642892.1:c.690A>C	ENSP00000494165.1:p.Gly230=
ENST00000643342.1:c.492A>C
ENST00000643439.1:c.*1159A>C	ENSP00000495849.1:n.*1159A>C
ENST00000643479.1:n.1605A>C
ENST00000643516.1:c.928A>C
ENST00000644218.1:c.1230A>C	ENSP00000493574.1:p.Gly410=
ENST00000644683.1:c.*872A>C	ENSP00000494085.1:n.*872A>C
ENST00000644810.1:c.1140A>C	ENSP00000495895.1:p.Gly380=
ENST00000644831.1:n.1595A>C
ENST00000644933.1:c.*285A>C	ENSP00000496133.1:n.*285A>C
ENST00000645285.1:c.*285A>C	ENSP00000495058.1:n.*285A>C
ENST00000645331.1:n.2624A>C
ENST00000645620.1:c.690A>C	ENSP00000493657.1:p.Gly230=
ENST00000646691.1:n.1306A>C
ENST00000646777.1:n.1752A>C
ENST00000647016.1:n.1899A>C
ENST00000647152.1:c.690A>C	ENSP00000495893.1:p.Gly230=
ENST00000647209.1:c.*1288A>C	ENSP00000495558.1:n.*1288A>C
ENST00000647346.1:n.2439A>C
ENST00000299427.10:c.1419A>C	ENSP00000299427.6:p.Gly473=
ENST00000524611.1:n.297A>C
ENST00000533371.5:c.690A>C	ENSP00000437066.1:p.Gly230=
ENST00000611494.4:c.1419A>C	ENSP00000484546.1:p.Gly473=
NM_000391.3:c.1419A>C	NP_000382.3:p.Gly473=
NM_000391.4:c.1419A>C MANE Select	NP_000382.3:p.Gly473=