Canonical Allele Identifier: CA379474312

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637646A>T (hg19) ; chr11:g.6616415A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616415A>T , CM000673.2:g.6616415A>T	GRCh38
NC_000011.9:g.6637646A>T , CM000673.1:g.6637646A>T	GRCh37
NC_000011.8:g.6594222A>T	NCBI36
NG_008653.1:g.8047T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.861T>A	ENSP00000507321.1:p.Tyr287Ter
ENST00000299427.12:c.975T>A MANE Select	ENSP00000299427.6:p.Tyr325Ter
ENST00000436873.7:c.313-341T>A
ENST00000533371.6:c.246T>A	ENSP00000437066.1:p.Tyr82Ter
ENST00000642892.1:c.246T>A	ENSP00000494165.1:p.Tyr82Ter
ENST00000643342.1:c.65T>A
ENST00000643439.1:c.*715T>A	ENSP00000495849.1:n.*715T>A
ENST00000643479.1:n.1161T>A
ENST00000643516.1:c.484T>A
ENST00000644218.1:c.886+246T>A	ENSP00000493574.1:n.886+246T>A
ENST00000644683.1:c.*428T>A	ENSP00000494085.1:n.*428T>A
ENST00000644810.1:c.696T>A	ENSP00000495895.1:p.Tyr232Ter
ENST00000644831.1:n.1151T>A
ENST00000644933.1:c.246T>A	ENSP00000496133.1:p.Tyr82Ter
ENST00000645285.1:c.157+246T>A	ENSP00000495058.1:n.157+246T>A
ENST00000645331.1:n.1498T>A
ENST00000645620.1:c.246T>A	ENSP00000493657.1:p.Tyr82Ter
ENST00000646691.1:n.68T>A
ENST00000646777.1:n.1308T>A
ENST00000647016.1:n.1455T>A
ENST00000647152.1:c.246T>A	ENSP00000495893.1:p.Tyr82Ter
ENST00000647209.1:c.*844T>A	ENSP00000495558.1:n.*844T>A
ENST00000647346.1:n.1995T>A
ENST00000299427.10:c.975T>A	ENSP00000299427.6:p.Tyr325Ter
ENST00000533371.5:c.246T>A	ENSP00000437066.1:p.Tyr82Ter
ENST00000611494.4:c.975T>A	ENSP00000484546.1:p.Tyr325Ter
NM_000391.3:c.975T>A	NP_000382.3:p.Tyr325Ter
NM_000391.4:c.975T>A MANE Select	NP_000382.3:p.Tyr325Ter