Canonical Allele Identifier: CA472771852

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636739T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615508T>G , CM000673.2:g.6615508T>G	GRCh38
NC_000011.9:g.6636739T>G , CM000673.1:g.6636739T>G	GRCh37
NC_000011.8:g.6593315T>G	NCBI36
NG_008653.1:g.8954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1086A>C	ENSP00000507321.1:p.Thr362=
ENST00000299427.12:c.1200A>C MANE Select	ENSP00000299427.6:p.Thr400=
ENST00000436873.7:c.437A>C
ENST00000524924.2:n.320A>C
ENST00000533371.6:c.471A>C	ENSP00000437066.1:p.Thr157=
ENST00000642892.1:c.471A>C	ENSP00000494165.1:p.Thr157=
ENST00000643342.1:c.273A>C
ENST00000643439.1:c.*940A>C	ENSP00000495849.1:n.*940A>C
ENST00000643479.1:n.1386A>C
ENST00000643516.1:c.709A>C
ENST00000644218.1:c.1011A>C	ENSP00000493574.1:p.Thr337=
ENST00000644683.1:c.*653A>C	ENSP00000494085.1:n.*653A>C
ENST00000644810.1:c.921A>C	ENSP00000495895.1:p.Thr307=
ENST00000644831.1:n.1376A>C
ENST00000644933.1:c.*66A>C	ENSP00000496133.1:n.*66A>C
ENST00000645285.1:c.*66A>C	ENSP00000495058.1:n.*66A>C
ENST00000645331.1:n.2405A>C
ENST00000645620.1:c.471A>C	ENSP00000493657.1:p.Thr157=
ENST00000646691.1:n.975A>C
ENST00000646777.1:n.1533A>C
ENST00000647016.1:n.1680A>C
ENST00000647152.1:c.471A>C	ENSP00000495893.1:p.Thr157=
ENST00000647209.1:c.*1069A>C	ENSP00000495558.1:n.*1069A>C
ENST00000647346.1:n.2220A>C
ENST00000299427.10:c.1200A>C	ENSP00000299427.6:p.Thr400=
ENST00000524924.1:n.155A>C
ENST00000532191.1:n.253A>C
ENST00000533371.5:c.471A>C	ENSP00000437066.1:p.Thr157=
ENST00000611494.4:c.1200A>C	ENSP00000484546.1:p.Thr400=
NM_000391.3:c.1200A>C	NP_000382.3:p.Thr400=
NM_000391.4:c.1200A>C MANE Select	NP_000382.3:p.Thr400=