Canonical Allele Identifier: CA472922852

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638368A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617137A>C , CM000673.2:g.6617137A>C	GRCh38
NC_000011.9:g.6638368A>C , CM000673.1:g.6638368A>C	GRCh37
NC_000011.8:g.6594944A>C	NCBI36
NG_008653.1:g.7325T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.411T>G	ENSP00000507321.1:p.Arg137=
ENST00000299427.12:c.525T>G MANE Select	ENSP00000299427.6:p.Arg175=
ENST00000428886.7:n.760T>G
ENST00000436873.7:c.312+164T>G
ENST00000524788.2:n.1684T>G
ENST00000524903.2:n.1800T>G
ENST00000528807.2:n.181T>G
ENST00000530040.2:n.479+222T>G
ENST00000533371.6:c.-205T>G	ENSP00000437066.1:n.-205T>G
ENST00000534644.6:n.473T>G
ENST00000642892.1:c.-205T>G	ENSP00000494165.1:n.-205T>G
ENST00000643439.1:c.*265T>G	ENSP00000495849.1:n.*265T>G
ENST00000643479.1:n.554T>G
ENST00000643516.1:c.395+164T>G
ENST00000644151.1:n.1964T>G
ENST00000644218.1:c.525T>G	ENSP00000493574.1:p.Arg175=
ENST00000644683.1:c.467T>G	ENSP00000494085.1:p.Val156Gly
ENST00000644810.1:c.246T>G	ENSP00000495895.1:p.Arg82=
ENST00000644831.1:n.701T>G
ENST00000644933.1:c.-205T>G	ENSP00000496133.1:n.-205T>G
ENST00000645020.1:n.1700T>G
ENST00000645285.1:c.-205T>G	ENSP00000495058.1:n.-205T>G
ENST00000645331.1:n.891T>G
ENST00000645620.1:c.-205T>G	ENSP00000493657.1:n.-205T>G
ENST00000646777.1:n.701T>G
ENST00000647016.1:n.1005T>G
ENST00000647152.1:c.-205T>G	ENSP00000495893.1:n.-205T>G
ENST00000647209.1:c.*394T>G	ENSP00000495558.1:n.*394T>G
ENST00000647346.1:n.1545T>G
ENST00000299427.10:c.525T>G	ENSP00000299427.6:p.Arg175=
ENST00000428886.6:n.694T>G
ENST00000436873.6:c.450+222T>G	ENSP00000398136.2:n.450+222T>G
ENST00000524788.1:n.225T>G
ENST00000528571.5:c.*265T>G	ENSP00000434647.1:n.*265T>G
ENST00000528807.1:n.75T>G
ENST00000533371.5:c.-205T>G	ENSP00000437066.1:n.-205T>G
ENST00000534644.5:n.510T>G
ENST00000611494.4:c.525T>G	ENSP00000484546.1:p.Arg175=
NM_000391.3:c.525T>G	NP_000382.3:p.Arg175=
NM_000391.4:c.525T>G MANE Select	NP_000382.3:p.Arg175=