Canonical Allele Identifier: CA2612256332

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614505-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614505T>C , CM000673.2:g.6614505T>C	GRCh38
NC_000011.9:g.6635736T>C , CM000673.1:g.6635736T>C	GRCh37
NC_000011.8:g.6592312T>C	NCBI36
NG_008653.1:g.9957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*41A>G	ENSP00000507321.1:n.*41A>G
ENST00000299427.12:c.*41A>G MANE Select	ENSP00000299427.6:n.*41A>G
ENST00000524611.2:n.772A>G
ENST00000533371.6:c.*41A>G	ENSP00000437066.1:n.*41A>G
ENST00000642892.1:c.*41A>G	ENSP00000494165.1:n.*41A>G
ENST00000643342.1:c.806A>G
ENST00000643439.1:c.*1473A>G	ENSP00000495849.1:n.*1473A>G
ENST00000643479.1:n.1919A>G
ENST00000643516.1:c.1242A>G
ENST00000644218.1:c.*41A>G	ENSP00000493574.1:n.*41A>G
ENST00000644683.1:c.*1186A>G	ENSP00000494085.1:n.*1186A>G
ENST00000644810.1:c.*41A>G	ENSP00000495895.1:n.*41A>G
ENST00000644831.1:n.1909A>G
ENST00000644933.1:c.*599A>G	ENSP00000496133.1:n.*599A>G
ENST00000645285.1:c.*599A>G	ENSP00000495058.1:n.*599A>G
ENST00000645331.1:n.2938A>G
ENST00000645620.1:c.*41A>G	ENSP00000493657.1:n.*41A>G
ENST00000646691.1:n.1620A>G
ENST00000646777.1:n.2066A>G
ENST00000647016.1:n.2213A>G
ENST00000647152.1:c.*41A>G	ENSP00000495893.1:n.*41A>G
ENST00000647209.1:c.*1602A>G	ENSP00000495558.1:n.*1602A>G
ENST00000647346.1:n.2753A>G
ENST00000299427.10:c.*41A>G	ENSP00000299427.6:n.*41A>G
ENST00000533371.5:c.*41A>G	ENSP00000437066.1:n.*41A>G
ENST00000611494.4:c.*61A>G	ENSP00000484546.1:n.*61A>G
NM_000391.3:c.*41A>G	NP_000382.3:n.*41A>G
NM_000391.4:c.*41A>G MANE Select	NP_000382.3:n.*41A>G