Canonical Allele Identifier: CA5858593

Gene: TPP1

Linked Data

• dbSNP Id: rs762621276
• ExAC: 11:6635810 G / C
• gnomAD v2: 11-6635810-G-C
• gnomAD v4: 11-6614579-G-C
• MyVariant Identifiers: chr11:g.6635810G>C (hg19) ; chr11:g.6614579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614579G>C , CM000673.2:g.6614579G>C	GRCh38
NC_000011.9:g.6635810G>C , CM000673.1:g.6635810G>C	GRCh37
NC_000011.8:g.6592386G>C	NCBI36
NG_008653.1:g.9883C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1545C>G	ENSP00000507321.1:p.Phe515Leu
ENST00000299427.12:c.1659C>G MANE Select	ENSP00000299427.6:p.Phe553Leu
ENST00000524611.2:n.698C>G
ENST00000533371.6:c.930C>G	ENSP00000437066.1:p.Phe310Leu
ENST00000642892.1:c.930C>G	ENSP00000494165.1:p.Phe310Leu
ENST00000643342.1:c.732C>G
ENST00000643439.1:c.*1399C>G	ENSP00000495849.1:n.*1399C>G
ENST00000643479.1:n.1845C>G
ENST00000643516.1:c.1168C>G
ENST00000644218.1:c.1470C>G	ENSP00000493574.1:p.Phe490Leu
ENST00000644683.1:c.*1112C>G	ENSP00000494085.1:n.*1112C>G
ENST00000644810.1:c.1380C>G	ENSP00000495895.1:p.Phe460Leu
ENST00000644831.1:n.1835C>G
ENST00000644933.1:c.*525C>G	ENSP00000496133.1:n.*525C>G
ENST00000645285.1:c.*525C>G	ENSP00000495058.1:n.*525C>G
ENST00000645331.1:n.2864C>G
ENST00000645620.1:c.930C>G	ENSP00000493657.1:p.Phe310Leu
ENST00000646691.1:n.1546C>G
ENST00000646777.1:n.1992C>G
ENST00000647016.1:n.2139C>G
ENST00000647152.1:c.930C>G	ENSP00000495893.1:p.Phe310Leu
ENST00000647209.1:c.*1528C>G	ENSP00000495558.1:n.*1528C>G
ENST00000647346.1:n.2679C>G
ENST00000299427.10:c.1659C>G	ENSP00000299427.6:p.Phe553Leu
ENST00000533371.5:c.930C>G	ENSP00000437066.1:p.Phe310Leu
ENST00000611494.4:c.1658C>G	ENSP00000484546.1:p.Ser553Cys
NM_000391.3:c.1659C>G	NP_000382.3:p.Phe553Leu
NM_000391.4:c.1659C>G MANE Select	NP_000382.3:p.Phe553Leu