Canonical Allele Identifier: CA379475561

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638332C>G (hg19) ; chr11:g.6617101C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617101C>G , CM000673.2:g.6617101C>G	GRCh38
NC_000011.9:g.6638332C>G , CM000673.1:g.6638332C>G	GRCh37
NC_000011.8:g.6594908C>G	NCBI36
NG_008653.1:g.7361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.447G>C	ENSP00000507321.1:p.Glu149Asp
ENST00000299427.12:c.561G>C MANE Select	ENSP00000299427.6:p.Glu187Asp
ENST00000428886.7:n.796G>C
ENST00000436873.7:c.312+200G>C
ENST00000524788.2:n.1720G>C
ENST00000524903.2:n.1836G>C
ENST00000528807.2:n.217G>C
ENST00000530040.2:n.479+258G>C
ENST00000533371.6:c.-169G>C	ENSP00000437066.1:n.-169G>C
ENST00000534644.6:n.509G>C
ENST00000642892.1:c.-169G>C	ENSP00000494165.1:n.-169G>C
ENST00000643439.1:c.*301G>C	ENSP00000495849.1:n.*301G>C
ENST00000643479.1:n.590G>C
ENST00000643516.1:c.395+200G>C
ENST00000644151.1:n.2000G>C
ENST00000644218.1:c.561G>C	ENSP00000493574.1:p.Glu187Asp
ENST00000644683.1:c.*14G>C	ENSP00000494085.1:n.*14G>C
ENST00000644810.1:c.282G>C	ENSP00000495895.1:p.Glu94Asp
ENST00000644831.1:n.737G>C
ENST00000644933.1:c.-169G>C	ENSP00000496133.1:n.-169G>C
ENST00000645020.1:n.1736G>C
ENST00000645285.1:c.-169G>C	ENSP00000495058.1:n.-169G>C
ENST00000645331.1:n.927G>C
ENST00000645620.1:c.-169G>C	ENSP00000493657.1:n.-169G>C
ENST00000646777.1:n.737G>C
ENST00000647016.1:n.1041G>C
ENST00000647152.1:c.-169G>C	ENSP00000495893.1:n.-169G>C
ENST00000647209.1:c.*430G>C	ENSP00000495558.1:n.*430G>C
ENST00000647346.1:n.1581G>C
ENST00000299427.10:c.561G>C	ENSP00000299427.6:p.Glu187Asp
ENST00000428886.6:n.730G>C
ENST00000436873.6:c.450+258G>C	ENSP00000398136.2:n.450+258G>C
ENST00000524788.1:n.261G>C
ENST00000528571.5:c.*301G>C	ENSP00000434647.1:n.*301G>C
ENST00000528807.1:n.111G>C
ENST00000533371.5:c.-169G>C	ENSP00000437066.1:n.-169G>C
ENST00000534644.5:n.546G>C
ENST00000611494.4:c.561G>C	ENSP00000484546.1:p.Glu187Asp
NM_000391.3:c.561G>C	NP_000382.3:p.Glu187Asp
NM_000391.4:c.561G>C MANE Select	NP_000382.3:p.Glu187Asp