Canonical Allele Identifier: CA472772120

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636775C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615544C>G , CM000673.2:g.6615544C>G	GRCh38
NC_000011.9:g.6636775C>G , CM000673.1:g.6636775C>G	GRCh37
NC_000011.8:g.6593351C>G	NCBI36
NG_008653.1:g.8918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1050G>C	ENSP00000507321.1:p.Val350=
ENST00000299427.12:c.1164G>C MANE Select	ENSP00000299427.6:p.Val388=
ENST00000436873.7:c.401G>C
ENST00000524924.2:n.284G>C
ENST00000533371.6:c.435G>C	ENSP00000437066.1:p.Val145=
ENST00000642892.1:c.435G>C	ENSP00000494165.1:p.Val145=
ENST00000643342.1:c.237G>C
ENST00000643439.1:c.*904G>C	ENSP00000495849.1:n.*904G>C
ENST00000643479.1:n.1350G>C
ENST00000643516.1:c.673G>C
ENST00000644218.1:c.975G>C	ENSP00000493574.1:p.Val325=
ENST00000644683.1:c.*617G>C	ENSP00000494085.1:n.*617G>C
ENST00000644810.1:c.885G>C	ENSP00000495895.1:p.Val295=
ENST00000644831.1:n.1340G>C
ENST00000644933.1:c.*30G>C	ENSP00000496133.1:n.*30G>C
ENST00000645285.1:c.*30G>C	ENSP00000495058.1:n.*30G>C
ENST00000645331.1:n.2369G>C
ENST00000645620.1:c.435G>C	ENSP00000493657.1:p.Val145=
ENST00000646691.1:n.939G>C
ENST00000646777.1:n.1497G>C
ENST00000647016.1:n.1644G>C
ENST00000647152.1:c.435G>C	ENSP00000495893.1:p.Val145=
ENST00000647209.1:c.*1033G>C	ENSP00000495558.1:n.*1033G>C
ENST00000647346.1:n.2184G>C
ENST00000299427.10:c.1164G>C	ENSP00000299427.6:p.Val388=
ENST00000524924.1:n.119G>C
ENST00000532191.1:n.217G>C
ENST00000533371.5:c.435G>C	ENSP00000437066.1:p.Val145=
ENST00000611494.4:c.1164G>C	ENSP00000484546.1:p.Val388=
NM_000391.3:c.1164G>C	NP_000382.3:p.Val388=
NM_000391.4:c.1164G>C MANE Select	NP_000382.3:p.Val388=