Canonical Allele Identifier: CA934782914

Gene: TPP1

Linked Data

• dbSNP Id: rs1855544630
• gnomAD v3: 11-6614503-G-A
• gnomAD v4: 11-6614503-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614503G>A , CM000673.2:g.6614503G>A	GRCh38
NC_000011.9:g.6635734G>A , CM000673.1:g.6635734G>A	GRCh37
NC_000011.8:g.6592310G>A	NCBI36
NG_008653.1:g.9959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*43C>T	ENSP00000507321.1:n.*43C>T
ENST00000299427.12:c.*43C>T MANE Select	ENSP00000299427.6:n.*43C>T
ENST00000524611.2:n.774C>T
ENST00000533371.6:c.*43C>T	ENSP00000437066.1:n.*43C>T
ENST00000642892.1:c.*43C>T	ENSP00000494165.1:n.*43C>T
ENST00000643342.1:c.808C>T
ENST00000643439.1:c.*1475C>T	ENSP00000495849.1:n.*1475C>T
ENST00000643479.1:n.1921C>T
ENST00000643516.1:c.1244C>T
ENST00000644218.1:c.*43C>T	ENSP00000493574.1:n.*43C>T
ENST00000644683.1:c.*1188C>T	ENSP00000494085.1:n.*1188C>T
ENST00000644810.1:c.*43C>T	ENSP00000495895.1:n.*43C>T
ENST00000644831.1:n.1911C>T
ENST00000644933.1:c.*601C>T	ENSP00000496133.1:n.*601C>T
ENST00000645285.1:c.*601C>T	ENSP00000495058.1:n.*601C>T
ENST00000645331.1:n.2940C>T
ENST00000645620.1:c.*43C>T	ENSP00000493657.1:n.*43C>T
ENST00000646691.1:n.1622C>T
ENST00000646777.1:n.2068C>T
ENST00000647016.1:n.2215C>T
ENST00000647152.1:c.*43C>T	ENSP00000495893.1:n.*43C>T
ENST00000647209.1:c.*1604C>T	ENSP00000495558.1:n.*1604C>T
ENST00000647346.1:n.2755C>T
ENST00000299427.10:c.*43C>T	ENSP00000299427.6:n.*43C>T
ENST00000533371.5:c.*43C>T	ENSP00000437066.1:n.*43C>T
ENST00000611494.4:c.*63C>T	ENSP00000484546.1:n.*63C>T
NM_000391.3:c.*43C>T	NP_000382.3:n.*43C>T
NM_000391.4:c.*43C>T MANE Select	NP_000382.3:n.*43C>T