Canonical Allele Identifier: CA379473018

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615512-A-G
• MyVariant Identifiers: chr11:g.6636743A>G (hg19) ; chr11:g.6615512A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615512A>G , CM000673.2:g.6615512A>G	GRCh38
NC_000011.9:g.6636743A>G , CM000673.1:g.6636743A>G	GRCh37
NC_000011.8:g.6593319A>G	NCBI36
NG_008653.1:g.8950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1082T>C	ENSP00000507321.1:p.Ile361Thr
ENST00000299427.12:c.1196T>C MANE Select	ENSP00000299427.6:p.Ile399Thr
ENST00000436873.7:c.433T>C
ENST00000524924.2:n.316T>C
ENST00000533371.6:c.467T>C	ENSP00000437066.1:p.Ile156Thr
ENST00000642892.1:c.467T>C	ENSP00000494165.1:p.Ile156Thr
ENST00000643342.1:c.269T>C
ENST00000643439.1:c.*936T>C	ENSP00000495849.1:n.*936T>C
ENST00000643479.1:n.1382T>C
ENST00000643516.1:c.705T>C
ENST00000644218.1:c.1007T>C	ENSP00000493574.1:p.Ile336Thr
ENST00000644683.1:c.*649T>C	ENSP00000494085.1:n.*649T>C
ENST00000644810.1:c.917T>C	ENSP00000495895.1:p.Ile306Thr
ENST00000644831.1:n.1372T>C
ENST00000644933.1:c.*62T>C	ENSP00000496133.1:n.*62T>C
ENST00000645285.1:c.*62T>C	ENSP00000495058.1:n.*62T>C
ENST00000645331.1:n.2401T>C
ENST00000645620.1:c.467T>C	ENSP00000493657.1:p.Ile156Thr
ENST00000646691.1:n.971T>C
ENST00000646777.1:n.1529T>C
ENST00000647016.1:n.1676T>C
ENST00000647152.1:c.467T>C	ENSP00000495893.1:p.Ile156Thr
ENST00000647209.1:c.*1065T>C	ENSP00000495558.1:n.*1065T>C
ENST00000647346.1:n.2216T>C
ENST00000299427.10:c.1196T>C	ENSP00000299427.6:p.Ile399Thr
ENST00000524924.1:n.151T>C
ENST00000532191.1:n.249T>C
ENST00000533371.5:c.467T>C	ENSP00000437066.1:p.Ile156Thr
ENST00000611494.4:c.1196T>C	ENSP00000484546.1:p.Ile399Thr
NM_000391.3:c.1196T>C	NP_000382.3:p.Ile399Thr
NM_000391.4:c.1196T>C MANE Select	NP_000382.3:p.Ile399Thr