Canonical Allele Identifier: CA379475612

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638358T>G (hg19) ; chr11:g.6617127T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617127T>G , CM000673.2:g.6617127T>G	GRCh38
NC_000011.9:g.6638358T>G , CM000673.1:g.6638358T>G	GRCh37
NC_000011.8:g.6594934T>G	NCBI36
NG_008653.1:g.7335A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.421A>C	ENSP00000507321.1:p.Thr141Pro
ENST00000299427.12:c.535A>C MANE Select	ENSP00000299427.6:p.Thr179Pro
ENST00000428886.7:n.770A>C
ENST00000436873.7:c.312+174A>C
ENST00000524788.2:n.1694A>C
ENST00000524903.2:n.1810A>C
ENST00000528807.2:n.191A>C
ENST00000530040.2:n.479+232A>C
ENST00000533371.6:c.-195A>C	ENSP00000437066.1:n.-195A>C
ENST00000534644.6:n.483A>C
ENST00000642892.1:c.-195A>C	ENSP00000494165.1:n.-195A>C
ENST00000643439.1:c.*275A>C	ENSP00000495849.1:n.*275A>C
ENST00000643479.1:n.564A>C
ENST00000643516.1:c.395+174A>C
ENST00000644151.1:n.1974A>C
ENST00000644218.1:c.535A>C	ENSP00000493574.1:p.Thr179Pro
ENST00000644683.1:c.477A>C	ENSP00000494085.1:p.Gln159His
ENST00000644810.1:c.256A>C	ENSP00000495895.1:p.Thr86Pro
ENST00000644831.1:n.711A>C
ENST00000644933.1:c.-195A>C	ENSP00000496133.1:n.-195A>C
ENST00000645020.1:n.1710A>C
ENST00000645285.1:c.-195A>C	ENSP00000495058.1:n.-195A>C
ENST00000645331.1:n.901A>C
ENST00000645620.1:c.-195A>C	ENSP00000493657.1:n.-195A>C
ENST00000646777.1:n.711A>C
ENST00000647016.1:n.1015A>C
ENST00000647152.1:c.-195A>C	ENSP00000495893.1:n.-195A>C
ENST00000647209.1:c.*404A>C	ENSP00000495558.1:n.*404A>C
ENST00000647346.1:n.1555A>C
ENST00000299427.10:c.535A>C	ENSP00000299427.6:p.Thr179Pro
ENST00000428886.6:n.704A>C
ENST00000436873.6:c.450+232A>C	ENSP00000398136.2:n.450+232A>C
ENST00000524788.1:n.235A>C
ENST00000528571.5:c.*275A>C	ENSP00000434647.1:n.*275A>C
ENST00000528807.1:n.85A>C
ENST00000533371.5:c.-195A>C	ENSP00000437066.1:n.-195A>C
ENST00000534644.5:n.520A>C
ENST00000611494.4:c.535A>C	ENSP00000484546.1:p.Thr179Pro
NM_000391.3:c.535A>C	NP_000382.3:p.Thr179Pro
NM_000391.4:c.535A>C MANE Select	NP_000382.3:p.Thr179Pro