Canonical Allele Identifier: CA379472649

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636470C>G (hg19) ; chr11:g.6615239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615239C>G , CM000673.2:g.6615239C>G	GRCh38
NC_000011.9:g.6636470C>G , CM000673.1:g.6636470C>G	GRCh37
NC_000011.8:g.6593046C>G	NCBI36
NG_008653.1:g.9223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1243G>C	ENSP00000507321.1:p.Ala415Pro
ENST00000299427.12:c.1357G>C MANE Select	ENSP00000299427.6:p.Ala453Pro
ENST00000524611.2:n.217G>C
ENST00000524924.2:n.477G>C
ENST00000533371.6:c.628G>C	ENSP00000437066.1:p.Ala210Pro
ENST00000642892.1:c.628G>C	ENSP00000494165.1:p.Ala210Pro
ENST00000643342.1:c.430G>C
ENST00000643439.1:c.*1097G>C	ENSP00000495849.1:n.*1097G>C
ENST00000643479.1:n.1543G>C
ENST00000643516.1:c.866G>C
ENST00000644218.1:c.1168G>C	ENSP00000493574.1:p.Ala390Pro
ENST00000644683.1:c.*810G>C	ENSP00000494085.1:n.*810G>C
ENST00000644810.1:c.1078G>C	ENSP00000495895.1:p.Ala360Pro
ENST00000644831.1:n.1533G>C
ENST00000644933.1:c.*223G>C	ENSP00000496133.1:n.*223G>C
ENST00000645285.1:c.*223G>C	ENSP00000495058.1:n.*223G>C
ENST00000645331.1:n.2562G>C
ENST00000645620.1:c.628G>C	ENSP00000493657.1:p.Ala210Pro
ENST00000646691.1:n.1244G>C
ENST00000646777.1:n.1690G>C
ENST00000647016.1:n.1837G>C
ENST00000647152.1:c.628G>C	ENSP00000495893.1:p.Ala210Pro
ENST00000647209.1:c.*1226G>C	ENSP00000495558.1:n.*1226G>C
ENST00000647346.1:n.2377G>C
ENST00000299427.10:c.1357G>C	ENSP00000299427.6:p.Ala453Pro
ENST00000524611.1:n.235G>C
ENST00000532191.1:n.410G>C
ENST00000533371.5:c.628G>C	ENSP00000437066.1:p.Ala210Pro
ENST00000611494.4:c.1357G>C	ENSP00000484546.1:p.Ala453Pro
NM_000391.3:c.1357G>C	NP_000382.3:p.Ala453Pro
NM_000391.4:c.1357G>C MANE Select	NP_000382.3:p.Ala453Pro