Canonical Allele Identifier: CA2612256338

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614512-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614512C>G , CM000673.2:g.6614512C>G	GRCh38
NC_000011.9:g.6635743C>G , CM000673.1:g.6635743C>G	GRCh37
NC_000011.8:g.6592319C>G	NCBI36
NG_008653.1:g.9950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*34G>C	ENSP00000507321.1:n.*34G>C
ENST00000299427.12:c.*34G>C MANE Select	ENSP00000299427.6:n.*34G>C
ENST00000524611.2:n.765G>C
ENST00000533371.6:c.*34G>C	ENSP00000437066.1:n.*34G>C
ENST00000642892.1:c.*34G>C	ENSP00000494165.1:n.*34G>C
ENST00000643342.1:c.799G>C
ENST00000643439.1:c.*1466G>C	ENSP00000495849.1:n.*1466G>C
ENST00000643479.1:n.1912G>C
ENST00000643516.1:c.1235G>C
ENST00000644218.1:c.*34G>C	ENSP00000493574.1:n.*34G>C
ENST00000644683.1:c.*1179G>C	ENSP00000494085.1:n.*1179G>C
ENST00000644810.1:c.*34G>C	ENSP00000495895.1:n.*34G>C
ENST00000644831.1:n.1902G>C
ENST00000644933.1:c.*592G>C	ENSP00000496133.1:n.*592G>C
ENST00000645285.1:c.*592G>C	ENSP00000495058.1:n.*592G>C
ENST00000645331.1:n.2931G>C
ENST00000645620.1:c.*34G>C	ENSP00000493657.1:n.*34G>C
ENST00000646691.1:n.1613G>C
ENST00000646777.1:n.2059G>C
ENST00000647016.1:n.2206G>C
ENST00000647152.1:c.*34G>C	ENSP00000495893.1:n.*34G>C
ENST00000647209.1:c.*1595G>C	ENSP00000495558.1:n.*1595G>C
ENST00000647346.1:n.2746G>C
ENST00000299427.10:c.*34G>C	ENSP00000299427.6:n.*34G>C
ENST00000533371.5:c.*34G>C	ENSP00000437066.1:n.*34G>C
ENST00000611494.4:c.*54G>C	ENSP00000484546.1:n.*54G>C
NM_000391.3:c.*34G>C	NP_000382.3:n.*34G>C
NM_000391.4:c.*34G>C MANE Select	NP_000382.3:n.*34G>C