Canonical Allele Identifier: CA2612256359

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614536-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614536T>G , CM000673.2:g.6614536T>G	GRCh38
NC_000011.9:g.6635767T>G , CM000673.1:g.6635767T>G	GRCh37
NC_000011.8:g.6592343T>G	NCBI36
NG_008653.1:g.9926A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*10A>C	ENSP00000507321.1:n.*10A>C
ENST00000299427.12:c.*10A>C MANE Select	ENSP00000299427.6:n.*10A>C
ENST00000524611.2:n.741A>C
ENST00000533371.6:c.*10A>C	ENSP00000437066.1:n.*10A>C
ENST00000642892.1:c.*10A>C	ENSP00000494165.1:n.*10A>C
ENST00000643342.1:c.775A>C
ENST00000643439.1:c.*1442A>C	ENSP00000495849.1:n.*1442A>C
ENST00000643479.1:n.1888A>C
ENST00000643516.1:c.1211A>C
ENST00000644218.1:c.*10A>C	ENSP00000493574.1:n.*10A>C
ENST00000644683.1:c.*1155A>C	ENSP00000494085.1:n.*1155A>C
ENST00000644810.1:c.*10A>C	ENSP00000495895.1:n.*10A>C
ENST00000644831.1:n.1878A>C
ENST00000644933.1:c.*568A>C	ENSP00000496133.1:n.*568A>C
ENST00000645285.1:c.*568A>C	ENSP00000495058.1:n.*568A>C
ENST00000645331.1:n.2907A>C
ENST00000645620.1:c.*10A>C	ENSP00000493657.1:n.*10A>C
ENST00000646691.1:n.1589A>C
ENST00000646777.1:n.2035A>C
ENST00000647016.1:n.2182A>C
ENST00000647152.1:c.*10A>C	ENSP00000495893.1:n.*10A>C
ENST00000647209.1:c.*1571A>C	ENSP00000495558.1:n.*1571A>C
ENST00000647346.1:n.2722A>C
ENST00000299427.10:c.*10A>C	ENSP00000299427.6:n.*10A>C
ENST00000533371.5:c.*10A>C	ENSP00000437066.1:n.*10A>C
ENST00000611494.4:c.*30A>C	ENSP00000484546.1:n.*30A>C
NM_000391.3:c.*10A>C	NP_000382.3:n.*10A>C
NM_000391.4:c.*10A>C MANE Select	NP_000382.3:n.*10A>C