Canonical Allele Identifier: CA379475702

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638549G>C (hg19) ; chr11:g.6617318G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617318G>C , CM000673.2:g.6617318G>C	GRCh38
NC_000011.9:g.6638549G>C , CM000673.1:g.6638549G>C	GRCh37
NC_000011.8:g.6595125G>C	NCBI36
NG_008653.1:g.7144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.377C>G	ENSP00000507321.1:p.Ala126Gly
ENST00000299427.12:c.491C>G MANE Select	ENSP00000299427.6:p.Ala164Gly
ENST00000428886.7:n.579C>G
ENST00000436873.7:c.295C>G
ENST00000524788.2:n.1503C>G
ENST00000524903.2:n.1619C>G
ENST00000528571.6:c.*231C>G	ENSP00000434647.1:n.*231C>G
ENST00000528807.2:n.147C>G
ENST00000530040.2:n.479+41C>G
ENST00000533371.6:c.-239C>G	ENSP00000437066.1:n.-239C>G
ENST00000534644.6:n.456+36C>G
ENST00000642892.1:c.-222+36C>G	ENSP00000494165.1:n.-222+36C>G
ENST00000643439.1:c.*231C>G	ENSP00000495849.1:n.*231C>G
ENST00000643479.1:n.520C>G
ENST00000643516.1:c.378C>G
ENST00000644151.1:n.1783C>G
ENST00000644218.1:c.491C>G	ENSP00000493574.1:p.Ala164Gly
ENST00000644683.1:c.450+41C>G	ENSP00000494085.1:n.450+41C>G
ENST00000644810.1:c.230-165C>G	ENSP00000495895.1:n.230-165C>G
ENST00000644831.1:n.520C>G
ENST00000644933.1:c.-239C>G	ENSP00000496133.1:n.-239C>G
ENST00000645020.1:n.1519C>G
ENST00000645285.1:c.-239C>G	ENSP00000495058.1:n.-239C>G
ENST00000645331.1:n.710C>G
ENST00000645620.1:c.-222+41C>G	ENSP00000493657.1:n.-222+41C>G
ENST00000646777.1:n.520C>G
ENST00000647016.1:n.824C>G
ENST00000647152.1:c.-239C>G	ENSP00000495893.1:n.-239C>G
ENST00000647209.1:c.*360C>G	ENSP00000495558.1:n.*360C>G
ENST00000647346.1:n.1511C>G
ENST00000299427.10:c.491C>G	ENSP00000299427.6:p.Ala164Gly
ENST00000428886.6:n.513C>G
ENST00000436873.6:c.450+41C>G	ENSP00000398136.2:n.450+41C>G
ENST00000524788.1:n.44C>G
ENST00000528571.5:c.*231C>G	ENSP00000434647.1:n.*231C>G
ENST00000533371.5:c.-239C>G	ENSP00000437066.1:n.-239C>G
ENST00000534644.5:n.476C>G
ENST00000611494.4:c.491C>G	ENSP00000484546.1:p.Ala164Gly
NM_000391.3:c.491C>G	NP_000382.3:p.Ala164Gly
NM_000391.4:c.491C>G MANE Select	NP_000382.3:p.Ala164Gly