Canonical Allele Identifier: CA472922825

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638347C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617116C>G , CM000673.2:g.6617116C>G	GRCh38
NC_000011.9:g.6638347C>G , CM000673.1:g.6638347C>G	GRCh37
NC_000011.8:g.6594923C>G	NCBI36
NG_008653.1:g.7346G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.432G>C	ENSP00000507321.1:p.Leu144=
ENST00000299427.12:c.546G>C MANE Select	ENSP00000299427.6:p.Leu182=
ENST00000428886.7:n.781G>C
ENST00000436873.7:c.312+185G>C
ENST00000524788.2:n.1705G>C
ENST00000524903.2:n.1821G>C
ENST00000528807.2:n.202G>C
ENST00000530040.2:n.479+243G>C
ENST00000533371.6:c.-184G>C	ENSP00000437066.1:n.-184G>C
ENST00000534644.6:n.494G>C
ENST00000642892.1:c.-184G>C	ENSP00000494165.1:n.-184G>C
ENST00000643439.1:c.*286G>C	ENSP00000495849.1:n.*286G>C
ENST00000643479.1:n.575G>C
ENST00000643516.1:c.395+185G>C
ENST00000644151.1:n.1985G>C
ENST00000644218.1:c.546G>C	ENSP00000493574.1:p.Leu182=
ENST00000644683.1:c.488G>C	ENSP00000494085.1:p.Ter163Ser
ENST00000644810.1:c.267G>C	ENSP00000495895.1:p.Leu89=
ENST00000644831.1:n.722G>C
ENST00000644933.1:c.-184G>C	ENSP00000496133.1:n.-184G>C
ENST00000645020.1:n.1721G>C
ENST00000645285.1:c.-184G>C	ENSP00000495058.1:n.-184G>C
ENST00000645331.1:n.912G>C
ENST00000645620.1:c.-184G>C	ENSP00000493657.1:n.-184G>C
ENST00000646777.1:n.722G>C
ENST00000647016.1:n.1026G>C
ENST00000647152.1:c.-184G>C	ENSP00000495893.1:n.-184G>C
ENST00000647209.1:c.*415G>C	ENSP00000495558.1:n.*415G>C
ENST00000647346.1:n.1566G>C
ENST00000299427.10:c.546G>C	ENSP00000299427.6:p.Leu182=
ENST00000428886.6:n.715G>C
ENST00000436873.6:c.450+243G>C	ENSP00000398136.2:n.450+243G>C
ENST00000524788.1:n.246G>C
ENST00000528571.5:c.*286G>C	ENSP00000434647.1:n.*286G>C
ENST00000528807.1:n.96G>C
ENST00000533371.5:c.-184G>C	ENSP00000437066.1:n.-184G>C
ENST00000534644.5:n.531G>C
ENST00000611494.4:c.546G>C	ENSP00000484546.1:p.Leu182=
NM_000391.3:c.546G>C	NP_000382.3:p.Leu182=
NM_000391.4:c.546G>C MANE Select	NP_000382.3:p.Leu182=