Canonical Allele Identifier: CA472922853

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.411T>C	ENSP00000507321.1:p.Arg137=
ENST00000299427.12:c.525T>C MANE Select	ENSP00000299427.6:p.Arg175=
ENST00000428886.7:n.760T>C
ENST00000436873.7:c.312+164T>C
ENST00000524788.2:n.1684T>C
ENST00000524903.2:n.1800T>C
ENST00000528807.2:n.181T>C
ENST00000530040.2:n.479+222T>C
ENST00000533371.6:c.-205T>C	ENSP00000437066.1:n.-205T>C
ENST00000534644.6:n.473T>C
ENST00000642892.1:c.-205T>C	ENSP00000494165.1:n.-205T>C
ENST00000643439.1:c.*265T>C	ENSP00000495849.1:n.*265T>C
ENST00000643479.1:n.554T>C
ENST00000643516.1:c.395+164T>C
ENST00000644151.1:n.1964T>C
ENST00000644218.1:c.525T>C	ENSP00000493574.1:p.Arg175=
ENST00000644683.1:c.467T>C	ENSP00000494085.1:p.Val156Ala
ENST00000644810.1:c.246T>C	ENSP00000495895.1:p.Arg82=
ENST00000644831.1:n.701T>C
ENST00000644933.1:c.-205T>C	ENSP00000496133.1:n.-205T>C
ENST00000645020.1:n.1700T>C
ENST00000645285.1:c.-205T>C	ENSP00000495058.1:n.-205T>C
ENST00000645331.1:n.891T>C
ENST00000645620.1:c.-205T>C	ENSP00000493657.1:n.-205T>C
ENST00000646777.1:n.701T>C
ENST00000647016.1:n.1005T>C
ENST00000647152.1:c.-205T>C	ENSP00000495893.1:n.-205T>C
ENST00000647209.1:c.*394T>C	ENSP00000495558.1:n.*394T>C
ENST00000647346.1:n.1545T>C
ENST00000299427.10:c.525T>C	ENSP00000299427.6:p.Arg175=
ENST00000428886.6:n.694T>C
ENST00000436873.6:c.450+222T>C	ENSP00000398136.2:n.450+222T>C
ENST00000524788.1:n.225T>C
ENST00000528571.5:c.*265T>C	ENSP00000434647.1:n.*265T>C
ENST00000528807.1:n.75T>C
ENST00000533371.5:c.-205T>C	ENSP00000437066.1:n.-205T>C
ENST00000534644.5:n.510T>C
ENST00000611494.4:c.525T>C	ENSP00000484546.1:p.Arg175=
NM_000391.3:c.525T>C	NP_000382.3:p.Arg175=
NM_000391.4:c.525T>C MANE Select	NP_000382.3:p.Arg175=