Canonical Allele Identifier: CA379471965

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614570-C-T
• MyVariant Identifiers: chr11:g.6635801C>T (hg19) ; chr11:g.6614570C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1554G>A	ENSP00000507321.1:p.Leu518=
ENST00000299427.12:c.1668G>A MANE Select	ENSP00000299427.6:p.Leu556=
ENST00000524611.2:n.707G>A
ENST00000533371.6:c.939G>A	ENSP00000437066.1:p.Leu313=
ENST00000642892.1:c.939G>A	ENSP00000494165.1:p.Leu313=
ENST00000643342.1:c.741G>A
ENST00000643439.1:c.*1408G>A	ENSP00000495849.1:n.*1408G>A
ENST00000643479.1:n.1854G>A
ENST00000643516.1:c.1177G>A
ENST00000644218.1:c.1479G>A	ENSP00000493574.1:p.Leu493=
ENST00000644683.1:c.*1121G>A	ENSP00000494085.1:n.*1121G>A
ENST00000644810.1:c.1389G>A	ENSP00000495895.1:p.Leu463=
ENST00000644831.1:n.1844G>A
ENST00000644933.1:c.*534G>A	ENSP00000496133.1:n.*534G>A
ENST00000645285.1:c.*534G>A	ENSP00000495058.1:n.*534G>A
ENST00000645331.1:n.2873G>A
ENST00000645620.1:c.939G>A	ENSP00000493657.1:p.Leu313=
ENST00000646691.1:n.1555G>A
ENST00000646777.1:n.2001G>A
ENST00000647016.1:n.2148G>A
ENST00000647152.1:c.939G>A	ENSP00000495893.1:p.Leu313=
ENST00000647209.1:c.*1537G>A	ENSP00000495558.1:n.*1537G>A
ENST00000647346.1:n.2688G>A
ENST00000299427.10:c.1668G>A	ENSP00000299427.6:p.Leu556=
ENST00000533371.5:c.939G>A	ENSP00000437066.1:p.Leu313=
ENST00000611494.4:c.1667G>A	ENSP00000484546.1:p.Cys556Tyr
NM_000391.3:c.1668G>A	NP_000382.3:p.Leu556=
NM_000391.4:c.1668G>A MANE Select	NP_000382.3:p.Leu556=