Canonical Allele Identifier: CA379474973

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637941G>C (hg19) ; chr11:g.6616710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616710G>C , CM000673.2:g.6616710G>C	GRCh38
NC_000011.9:g.6637941G>C , CM000673.1:g.6637941G>C	GRCh37
NC_000011.8:g.6594517G>C	NCBI36
NG_008653.1:g.7752C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.723C>G	ENSP00000507321.1:p.Tyr241Ter
ENST00000299427.12:c.837C>G MANE Select	ENSP00000299427.6:p.Tyr279Ter
ENST00000436873.7:c.312+591C>G
ENST00000524788.2:n.1996C>G
ENST00000524903.2:n.2112C>G
ENST00000528807.2:n.493C>G
ENST00000530040.2:n.480-207C>G
ENST00000533371.6:c.108C>G	ENSP00000437066.1:p.Tyr36Ter
ENST00000642892.1:c.108C>G	ENSP00000494165.1:p.Tyr36Ter
ENST00000643439.1:c.*577C>G	ENSP00000495849.1:n.*577C>G
ENST00000643479.1:n.866C>G
ENST00000643516.1:c.396-207C>G
ENST00000644151.1:n.2276C>G
ENST00000644218.1:c.837C>G	ENSP00000493574.1:p.Tyr279Ter
ENST00000644683.1:c.*290C>G	ENSP00000494085.1:n.*290C>G
ENST00000644810.1:c.558C>G	ENSP00000495895.1:p.Tyr186Ter
ENST00000644831.1:n.1013C>G
ENST00000644933.1:c.108C>G	ENSP00000496133.1:p.Tyr36Ter
ENST00000645020.1:n.2127C>G
ENST00000645285.1:c.108C>G	ENSP00000495058.1:p.Tyr36Ter
ENST00000645331.1:n.1203C>G
ENST00000645620.1:c.108C>G	ENSP00000493657.1:p.Tyr36Ter
ENST00000646777.1:n.1013C>G
ENST00000647016.1:n.1317C>G
ENST00000647152.1:c.108C>G	ENSP00000495893.1:p.Tyr36Ter
ENST00000647209.1:c.*706C>G	ENSP00000495558.1:n.*706C>G
ENST00000647346.1:n.1857C>G
ENST00000299427.10:c.837C>G	ENSP00000299427.6:p.Tyr279Ter
ENST00000436873.6:c.451-207C>G	ENSP00000398136.2:n.451-207C>G
ENST00000524788.1:n.537C>G
ENST00000528807.1:n.387C>G
ENST00000533371.5:c.108C>G	ENSP00000437066.1:p.Tyr36Ter
ENST00000611494.4:c.837C>G	ENSP00000484546.1:p.Tyr279Ter
NM_000391.3:c.837C>G	NP_000382.3:p.Tyr279Ter
NM_000391.4:c.837C>G MANE Select	NP_000382.3:p.Tyr279Ter