Canonical Allele Identifier: CA379471966

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635801C>G (hg19) ; chr11:g.6614570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614570C>G , CM000673.2:g.6614570C>G	GRCh38
NC_000011.9:g.6635801C>G , CM000673.1:g.6635801C>G	GRCh37
NC_000011.8:g.6592377C>G	NCBI36
NG_008653.1:g.9892G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1554G>C	ENSP00000507321.1:p.Leu518Phe
ENST00000299427.12:c.1668G>C MANE Select	ENSP00000299427.6:p.Leu556Phe
ENST00000524611.2:n.707G>C
ENST00000533371.6:c.939G>C	ENSP00000437066.1:p.Leu313Phe
ENST00000642892.1:c.939G>C	ENSP00000494165.1:p.Leu313Phe
ENST00000643342.1:c.741G>C
ENST00000643439.1:c.*1408G>C	ENSP00000495849.1:n.*1408G>C
ENST00000643479.1:n.1854G>C
ENST00000643516.1:c.1177G>C
ENST00000644218.1:c.1479G>C	ENSP00000493574.1:p.Leu493Phe
ENST00000644683.1:c.*1121G>C	ENSP00000494085.1:n.*1121G>C
ENST00000644810.1:c.1389G>C	ENSP00000495895.1:p.Leu463Phe
ENST00000644831.1:n.1844G>C
ENST00000644933.1:c.*534G>C	ENSP00000496133.1:n.*534G>C
ENST00000645285.1:c.*534G>C	ENSP00000495058.1:n.*534G>C
ENST00000645331.1:n.2873G>C
ENST00000645620.1:c.939G>C	ENSP00000493657.1:p.Leu313Phe
ENST00000646691.1:n.1555G>C
ENST00000646777.1:n.2001G>C
ENST00000647016.1:n.2148G>C
ENST00000647152.1:c.939G>C	ENSP00000495893.1:p.Leu313Phe
ENST00000647209.1:c.*1537G>C	ENSP00000495558.1:n.*1537G>C
ENST00000647346.1:n.2688G>C
ENST00000299427.10:c.1668G>C	ENSP00000299427.6:p.Leu556Phe
ENST00000533371.5:c.939G>C	ENSP00000437066.1:p.Leu313Phe
ENST00000611494.4:c.1667G>C	ENSP00000484546.1:p.Cys556Ser
NM_000391.3:c.1668G>C	NP_000382.3:p.Leu556Phe
NM_000391.4:c.1668G>C MANE Select	NP_000382.3:p.Leu556Phe