Canonical Allele Identifier: CA472922741

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638299C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617068C>A , CM000673.2:g.6617068C>A	GRCh38
NC_000011.9:g.6638299C>A , CM000673.1:g.6638299C>A	GRCh37
NC_000011.8:g.6594875C>A	NCBI36
NG_008653.1:g.7394G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.480G>T	ENSP00000507321.1:p.Leu160=
ENST00000299427.12:c.594G>T MANE Select	ENSP00000299427.6:p.Leu198=
ENST00000428886.7:n.829G>T
ENST00000436873.7:c.312+233G>T
ENST00000524788.2:n.1753G>T
ENST00000524903.2:n.1869G>T
ENST00000528807.2:n.250G>T
ENST00000530040.2:n.479+291G>T
ENST00000533371.6:c.-136G>T	ENSP00000437066.1:n.-136G>T
ENST00000534644.6:n.542G>T
ENST00000642892.1:c.-136G>T	ENSP00000494165.1:n.-136G>T
ENST00000643439.1:c.*334G>T	ENSP00000495849.1:n.*334G>T
ENST00000643479.1:n.623G>T
ENST00000643516.1:c.395+233G>T
ENST00000644151.1:n.2033G>T
ENST00000644218.1:c.594G>T	ENSP00000493574.1:p.Leu198=
ENST00000644683.1:c.*47G>T	ENSP00000494085.1:n.*47G>T
ENST00000644810.1:c.315G>T	ENSP00000495895.1:p.Leu105=
ENST00000644831.1:n.770G>T
ENST00000644933.1:c.-136G>T	ENSP00000496133.1:n.-136G>T
ENST00000645020.1:n.1769G>T
ENST00000645285.1:c.-136G>T	ENSP00000495058.1:n.-136G>T
ENST00000645331.1:n.960G>T
ENST00000645620.1:c.-136G>T	ENSP00000493657.1:n.-136G>T
ENST00000646777.1:n.770G>T
ENST00000647016.1:n.1074G>T
ENST00000647152.1:c.-136G>T	ENSP00000495893.1:n.-136G>T
ENST00000647209.1:c.*463G>T	ENSP00000495558.1:n.*463G>T
ENST00000647346.1:n.1614G>T
ENST00000299427.10:c.594G>T	ENSP00000299427.6:p.Leu198=
ENST00000428886.6:n.763G>T
ENST00000436873.6:c.450+291G>T	ENSP00000398136.2:n.450+291G>T
ENST00000524788.1:n.294G>T
ENST00000528571.5:c.*334G>T	ENSP00000434647.1:n.*334G>T
ENST00000528807.1:n.144G>T
ENST00000533371.5:c.-136G>T	ENSP00000437066.1:n.-136G>T
ENST00000534644.5:n.579G>T
ENST00000611494.4:c.594G>T	ENSP00000484546.1:p.Leu198=
NM_000391.3:c.594G>T	NP_000382.3:p.Leu198=
NM_000391.4:c.594G>T MANE Select	NP_000382.3:p.Leu198=