Canonical Allele Identifier: CA1950232423

Gene: TPP1

Linked Data

• dbSNP Id: rs1855543777

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614473A>G , CM000673.2:g.6614473A>G	GRCh38
NC_000011.9:g.6635704A>G , CM000673.1:g.6635704A>G	GRCh37
NC_000011.8:g.6592280A>G	NCBI36
NG_008653.1:g.9989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*73T>C	ENSP00000507321.1:n.*73T>C
ENST00000299427.12:c.*73T>C MANE Select	ENSP00000299427.6:n.*73T>C
ENST00000524611.2:n.804T>C
ENST00000533371.6:c.*73T>C	ENSP00000437066.1:n.*73T>C
ENST00000642892.1:c.*73T>C	ENSP00000494165.1:n.*73T>C
ENST00000643342.1:c.838T>C
ENST00000643439.1:c.*1505T>C	ENSP00000495849.1:n.*1505T>C
ENST00000643479.1:n.1951T>C
ENST00000643516.1:c.1274T>C
ENST00000644218.1:c.*73T>C	ENSP00000493574.1:n.*73T>C
ENST00000644683.1:c.*1218T>C	ENSP00000494085.1:n.*1218T>C
ENST00000644810.1:c.*73T>C	ENSP00000495895.1:n.*73T>C
ENST00000644831.1:n.1941T>C
ENST00000644933.1:c.*631T>C	ENSP00000496133.1:n.*631T>C
ENST00000645285.1:c.*631T>C	ENSP00000495058.1:n.*631T>C
ENST00000645331.1:n.2970T>C
ENST00000645620.1:c.*73T>C	ENSP00000493657.1:n.*73T>C
ENST00000646691.1:n.1652T>C
ENST00000646777.1:n.2098T>C
ENST00000647016.1:n.2245T>C
ENST00000647152.1:c.*73T>C	ENSP00000495893.1:n.*73T>C
ENST00000647209.1:c.*1634T>C	ENSP00000495558.1:n.*1634T>C
ENST00000647346.1:n.2785T>C
ENST00000299427.10:c.*73T>C	ENSP00000299427.6:n.*73T>C
ENST00000533371.5:c.*73T>C	ENSP00000437066.1:n.*73T>C
ENST00000611494.4:c.*93T>C	ENSP00000484546.1:n.*93T>C
NM_000391.3:c.*73T>C	NP_000382.3:n.*73T>C
NM_000391.4:c.*73T>C MANE Select	NP_000382.3:n.*73T>C