Canonical Allele Identifier: CA379475127

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638021G>C (hg19) ; chr11:g.6616790G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616790G>C , CM000673.2:g.6616790G>C	GRCh38
NC_000011.9:g.6638021G>C , CM000673.1:g.6638021G>C	GRCh37
NC_000011.8:g.6594597G>C	NCBI36
NG_008653.1:g.7672C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.643C>G	ENSP00000507321.1:p.His215Asp
ENST00000299427.12:c.757C>G MANE Select	ENSP00000299427.6:p.His253Asp
ENST00000436873.7:c.312+511C>G
ENST00000524788.2:n.1916C>G
ENST00000524903.2:n.2032C>G
ENST00000528807.2:n.413C>G
ENST00000530040.2:n.480-287C>G
ENST00000533371.6:c.28C>G	ENSP00000437066.1:p.His10Asp
ENST00000642892.1:c.28C>G	ENSP00000494165.1:p.His10Asp
ENST00000643439.1:c.*497C>G	ENSP00000495849.1:n.*497C>G
ENST00000643479.1:n.786C>G
ENST00000643516.1:c.396-287C>G
ENST00000644151.1:n.2196C>G
ENST00000644218.1:c.757C>G	ENSP00000493574.1:p.His253Asp
ENST00000644683.1:c.*210C>G	ENSP00000494085.1:n.*210C>G
ENST00000644810.1:c.478C>G	ENSP00000495895.1:p.His160Asp
ENST00000644831.1:n.933C>G
ENST00000644933.1:c.28C>G	ENSP00000496133.1:p.His10Asp
ENST00000645020.1:n.2047C>G
ENST00000645285.1:c.28C>G	ENSP00000495058.1:p.His10Asp
ENST00000645331.1:n.1123C>G
ENST00000645620.1:c.28C>G	ENSP00000493657.1:p.His10Asp
ENST00000646777.1:n.933C>G
ENST00000647016.1:n.1237C>G
ENST00000647152.1:c.28C>G	ENSP00000495893.1:p.His10Asp
ENST00000647209.1:c.*626C>G	ENSP00000495558.1:n.*626C>G
ENST00000647346.1:n.1777C>G
ENST00000299427.10:c.757C>G	ENSP00000299427.6:p.His253Asp
ENST00000436873.6:c.451-287C>G	ENSP00000398136.2:n.451-287C>G
ENST00000524788.1:n.457C>G
ENST00000528807.1:n.307C>G
ENST00000533371.5:c.28C>G	ENSP00000437066.1:p.His10Asp
ENST00000611494.4:c.757C>G	ENSP00000484546.1:p.His253Asp
NM_000391.3:c.757C>G	NP_000382.3:p.His253Asp
NM_000391.4:c.757C>G MANE Select	NP_000382.3:p.His253Asp