Canonical Allele Identifier: CA472922415

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637580A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616349A>C , CM000673.2:g.6616349A>C	GRCh38
NC_000011.9:g.6637580A>C , CM000673.1:g.6637580A>C	GRCh37
NC_000011.8:g.6594156A>C	NCBI36
NG_008653.1:g.8113T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.927T>G	ENSP00000507321.1:p.Ala309=
ENST00000299427.12:c.1041T>G MANE Select	ENSP00000299427.6:p.Ala347=
ENST00000436873.7:c.313-275T>G
ENST00000533371.6:c.312T>G	ENSP00000437066.1:p.Ala104=
ENST00000642892.1:c.312T>G	ENSP00000494165.1:p.Ala104=
ENST00000643342.1:c.131T>G
ENST00000643439.1:c.*781T>G	ENSP00000495849.1:n.*781T>G
ENST00000643479.1:n.1227T>G
ENST00000643516.1:c.550T>G
ENST00000644218.1:c.887-275T>G	ENSP00000493574.1:n.887-275T>G
ENST00000644683.1:c.*494T>G	ENSP00000494085.1:n.*494T>G
ENST00000644810.1:c.762T>G	ENSP00000495895.1:p.Ala254=
ENST00000644831.1:n.1217T>G
ENST00000644933.1:c.312T>G	ENSP00000496133.1:p.Ala104=
ENST00000645285.1:c.158-275T>G	ENSP00000495058.1:n.158-275T>G
ENST00000645331.1:n.1564T>G
ENST00000645620.1:c.312T>G	ENSP00000493657.1:p.Ala104=
ENST00000646691.1:n.134T>G
ENST00000646777.1:n.1374T>G
ENST00000647016.1:n.1521T>G
ENST00000647152.1:c.312T>G	ENSP00000495893.1:p.Ala104=
ENST00000647209.1:c.*910T>G	ENSP00000495558.1:n.*910T>G
ENST00000647346.1:n.2061T>G
ENST00000299427.10:c.1041T>G	ENSP00000299427.6:p.Ala347=
ENST00000533371.5:c.312T>G	ENSP00000437066.1:p.Ala104=
ENST00000611494.4:c.1041T>G	ENSP00000484546.1:p.Ala347=
NM_000391.3:c.1041T>G	NP_000382.3:p.Ala347=
NM_000391.4:c.1041T>G MANE Select	NP_000382.3:p.Ala347=