Canonical Allele Identifier: CA379472723

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636504G>C (hg19) ; chr11:g.6615273G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615273G>C , CM000673.2:g.6615273G>C	GRCh38
NC_000011.9:g.6636504G>C , CM000673.1:g.6636504G>C	GRCh37
NC_000011.8:g.6593080G>C	NCBI36
NG_008653.1:g.9189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1209C>G	ENSP00000507321.1:p.Tyr403Ter
ENST00000299427.12:c.1323C>G MANE Select	ENSP00000299427.6:p.Tyr441Ter
ENST00000524611.2:n.183C>G
ENST00000524924.2:n.443C>G
ENST00000533371.6:c.594C>G	ENSP00000437066.1:p.Tyr198Ter
ENST00000642892.1:c.594C>G	ENSP00000494165.1:p.Tyr198Ter
ENST00000643342.1:c.396C>G
ENST00000643439.1:c.*1063C>G	ENSP00000495849.1:n.*1063C>G
ENST00000643479.1:n.1509C>G
ENST00000643516.1:c.832C>G
ENST00000644218.1:c.1134C>G	ENSP00000493574.1:p.Tyr378Ter
ENST00000644683.1:c.*776C>G	ENSP00000494085.1:n.*776C>G
ENST00000644810.1:c.1044C>G	ENSP00000495895.1:p.Tyr348Ter
ENST00000644831.1:n.1499C>G
ENST00000644933.1:c.*189C>G	ENSP00000496133.1:n.*189C>G
ENST00000645285.1:c.*189C>G	ENSP00000495058.1:n.*189C>G
ENST00000645331.1:n.2528C>G
ENST00000645620.1:c.594C>G	ENSP00000493657.1:p.Tyr198Ter
ENST00000646691.1:n.1210C>G
ENST00000646777.1:n.1656C>G
ENST00000647016.1:n.1803C>G
ENST00000647152.1:c.594C>G	ENSP00000495893.1:p.Tyr198Ter
ENST00000647209.1:c.*1192C>G	ENSP00000495558.1:n.*1192C>G
ENST00000647346.1:n.2343C>G
ENST00000299427.10:c.1323C>G	ENSP00000299427.6:p.Tyr441Ter
ENST00000524611.1:n.201C>G
ENST00000524924.1:n.278C>G
ENST00000532191.1:n.376C>G
ENST00000533371.5:c.594C>G	ENSP00000437066.1:p.Tyr198Ter
ENST00000611494.4:c.1323C>G	ENSP00000484546.1:p.Tyr441Ter
NM_000391.3:c.1323C>G	NP_000382.3:p.Tyr441Ter
NM_000391.4:c.1323C>G MANE Select	NP_000382.3:p.Tyr441Ter