Canonical Allele Identifier: CA2612256322

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614492-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614492C>G , CM000673.2:g.6614492C>G	GRCh38
NC_000011.9:g.6635723C>G , CM000673.1:g.6635723C>G	GRCh37
NC_000011.8:g.6592299C>G	NCBI36
NG_008653.1:g.9970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*54G>C	ENSP00000507321.1:n.*54G>C
ENST00000299427.12:c.*54G>C MANE Select	ENSP00000299427.6:n.*54G>C
ENST00000524611.2:n.785G>C
ENST00000533371.6:c.*54G>C	ENSP00000437066.1:n.*54G>C
ENST00000642892.1:c.*54G>C	ENSP00000494165.1:n.*54G>C
ENST00000643342.1:c.819G>C
ENST00000643439.1:c.*1486G>C	ENSP00000495849.1:n.*1486G>C
ENST00000643479.1:n.1932G>C
ENST00000643516.1:c.1255G>C
ENST00000644218.1:c.*54G>C	ENSP00000493574.1:n.*54G>C
ENST00000644683.1:c.*1199G>C	ENSP00000494085.1:n.*1199G>C
ENST00000644810.1:c.*54G>C	ENSP00000495895.1:n.*54G>C
ENST00000644831.1:n.1922G>C
ENST00000644933.1:c.*612G>C	ENSP00000496133.1:n.*612G>C
ENST00000645285.1:c.*612G>C	ENSP00000495058.1:n.*612G>C
ENST00000645331.1:n.2951G>C
ENST00000645620.1:c.*54G>C	ENSP00000493657.1:n.*54G>C
ENST00000646691.1:n.1633G>C
ENST00000646777.1:n.2079G>C
ENST00000647016.1:n.2226G>C
ENST00000647152.1:c.*54G>C	ENSP00000495893.1:n.*54G>C
ENST00000647209.1:c.*1615G>C	ENSP00000495558.1:n.*1615G>C
ENST00000647346.1:n.2766G>C
ENST00000299427.10:c.*54G>C	ENSP00000299427.6:n.*54G>C
ENST00000533371.5:c.*54G>C	ENSP00000437066.1:n.*54G>C
ENST00000611494.4:c.*74G>C	ENSP00000484546.1:n.*74G>C
NM_000391.3:c.*54G>C	NP_000382.3:n.*54G>C
NM_000391.4:c.*54G>C MANE Select	NP_000382.3:n.*54G>C