Canonical Allele Identifier: CA379474905

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637918A>G (hg19) ; chr11:g.6616687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616687A>G , CM000673.2:g.6616687A>G	GRCh38
NC_000011.9:g.6637918A>G , CM000673.1:g.6637918A>G	GRCh37
NC_000011.8:g.6594494A>G	NCBI36
NG_008653.1:g.7775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.746T>C	ENSP00000507321.1:p.Ile249Thr
ENST00000299427.12:c.860T>C MANE Select	ENSP00000299427.6:p.Ile287Thr
ENST00000436873.7:c.313-613T>C
ENST00000524788.2:n.2019T>C
ENST00000524903.2:n.2135T>C
ENST00000528807.2:n.516T>C
ENST00000530040.2:n.480-184T>C
ENST00000533371.6:c.131T>C	ENSP00000437066.1:p.Ile44Thr
ENST00000642892.1:c.131T>C	ENSP00000494165.1:p.Ile44Thr
ENST00000643439.1:c.*600T>C	ENSP00000495849.1:n.*600T>C
ENST00000643479.1:n.889T>C
ENST00000643516.1:c.396-184T>C
ENST00000644151.1:n.2299T>C
ENST00000644218.1:c.860T>C	ENSP00000493574.1:p.Ile287Thr
ENST00000644683.1:c.*313T>C	ENSP00000494085.1:n.*313T>C
ENST00000644810.1:c.581T>C	ENSP00000495895.1:p.Ile194Thr
ENST00000644831.1:n.1036T>C
ENST00000644933.1:c.131T>C	ENSP00000496133.1:p.Ile44Thr
ENST00000645020.1:n.2150T>C
ENST00000645285.1:c.131T>C	ENSP00000495058.1:p.Ile44Thr
ENST00000645331.1:n.1226T>C
ENST00000645620.1:c.131T>C	ENSP00000493657.1:p.Ile44Thr
ENST00000646777.1:n.1036T>C
ENST00000647016.1:n.1340T>C
ENST00000647152.1:c.131T>C	ENSP00000495893.1:p.Ile44Thr
ENST00000647209.1:c.*729T>C	ENSP00000495558.1:n.*729T>C
ENST00000647346.1:n.1880T>C
ENST00000299427.10:c.860T>C	ENSP00000299427.6:p.Ile287Thr
ENST00000436873.6:c.451-184T>C	ENSP00000398136.2:n.451-184T>C
ENST00000528807.1:n.410T>C
ENST00000533371.5:c.131T>C	ENSP00000437066.1:p.Ile44Thr
ENST00000611494.4:c.860T>C	ENSP00000484546.1:p.Ile287Thr
NM_000391.3:c.860T>C	NP_000382.3:p.Ile287Thr
NM_000391.4:c.860T>C MANE Select	NP_000382.3:p.Ile287Thr