Canonical Allele Identifier: CA379472219

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614682-G-C
• MyVariant Identifiers: chr11:g.6635913G>C (hg19) ; chr11:g.6614682G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614682G>C , CM000673.2:g.6614682G>C	GRCh38
NC_000011.9:g.6635913G>C , CM000673.1:g.6635913G>C	GRCh37
NC_000011.8:g.6592489G>C	NCBI36
NG_008653.1:g.9780C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1442C>G	ENSP00000507321.1:p.Thr481Ser
ENST00000299427.12:c.1556C>G MANE Select	ENSP00000299427.6:p.Thr519Ser
ENST00000524611.2:n.595C>G
ENST00000524924.2:n.676C>G
ENST00000533371.6:c.827C>G	ENSP00000437066.1:p.Thr276Ser
ENST00000642892.1:c.827C>G	ENSP00000494165.1:p.Thr276Ser
ENST00000643342.1:c.629C>G
ENST00000643439.1:c.*1296C>G	ENSP00000495849.1:n.*1296C>G
ENST00000643479.1:n.1742C>G
ENST00000643516.1:c.1065C>G
ENST00000644218.1:c.1367C>G	ENSP00000493574.1:p.Thr456Ser
ENST00000644683.1:c.*1009C>G	ENSP00000494085.1:n.*1009C>G
ENST00000644810.1:c.1277C>G	ENSP00000495895.1:p.Thr426Ser
ENST00000644831.1:n.1732C>G
ENST00000644933.1:c.*422C>G	ENSP00000496133.1:n.*422C>G
ENST00000645285.1:c.*422C>G	ENSP00000495058.1:n.*422C>G
ENST00000645331.1:n.2761C>G
ENST00000645620.1:c.827C>G	ENSP00000493657.1:p.Thr276Ser
ENST00000646691.1:n.1443C>G
ENST00000646777.1:n.1889C>G
ENST00000647016.1:n.2036C>G
ENST00000647152.1:c.827C>G	ENSP00000495893.1:p.Thr276Ser
ENST00000647209.1:c.*1425C>G	ENSP00000495558.1:n.*1425C>G
ENST00000647346.1:n.2576C>G
ENST00000299427.10:c.1556C>G	ENSP00000299427.6:p.Thr519Ser
ENST00000524611.1:n.434C>G
ENST00000533371.5:c.827C>G	ENSP00000437066.1:p.Thr276Ser
ENST00000611494.4:c.1556C>G	ENSP00000484546.1:p.Thr519Ser
NM_000391.3:c.1556C>G	NP_000382.3:p.Thr519Ser
NM_000391.4:c.1556C>G MANE Select	NP_000382.3:p.Thr519Ser