Canonical Allele Identifier: CA379474968

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637937T>G (hg19) ; chr11:g.6616706T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616706T>G , CM000673.2:g.6616706T>G	GRCh38
NC_000011.9:g.6637937T>G , CM000673.1:g.6637937T>G	GRCh37
NC_000011.8:g.6594513T>G	NCBI36
NG_008653.1:g.7756A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.727A>C	ENSP00000507321.1:p.Met243Leu
ENST00000299427.12:c.841A>C MANE Select	ENSP00000299427.6:p.Met281Leu
ENST00000436873.7:c.312+595A>C
ENST00000524788.2:n.2000A>C
ENST00000524903.2:n.2116A>C
ENST00000528807.2:n.497A>C
ENST00000530040.2:n.480-203A>C
ENST00000533371.6:c.112A>C	ENSP00000437066.1:p.Met38Leu
ENST00000642892.1:c.112A>C	ENSP00000494165.1:p.Met38Leu
ENST00000643439.1:c.*581A>C	ENSP00000495849.1:n.*581A>C
ENST00000643479.1:n.870A>C
ENST00000643516.1:c.396-203A>C
ENST00000644151.1:n.2280A>C
ENST00000644218.1:c.841A>C	ENSP00000493574.1:p.Met281Leu
ENST00000644683.1:c.*294A>C	ENSP00000494085.1:n.*294A>C
ENST00000644810.1:c.562A>C	ENSP00000495895.1:p.Met188Leu
ENST00000644831.1:n.1017A>C
ENST00000644933.1:c.112A>C	ENSP00000496133.1:p.Met38Leu
ENST00000645020.1:n.2131A>C
ENST00000645285.1:c.112A>C	ENSP00000495058.1:p.Met38Leu
ENST00000645331.1:n.1207A>C
ENST00000645620.1:c.112A>C	ENSP00000493657.1:p.Met38Leu
ENST00000646777.1:n.1017A>C
ENST00000647016.1:n.1321A>C
ENST00000647152.1:c.112A>C	ENSP00000495893.1:p.Met38Leu
ENST00000647209.1:c.*710A>C	ENSP00000495558.1:n.*710A>C
ENST00000647346.1:n.1861A>C
ENST00000299427.10:c.841A>C	ENSP00000299427.6:p.Met281Leu
ENST00000436873.6:c.451-203A>C	ENSP00000398136.2:n.451-203A>C
ENST00000524788.1:n.541A>C
ENST00000528807.1:n.391A>C
ENST00000533371.5:c.112A>C	ENSP00000437066.1:p.Met38Leu
ENST00000611494.4:c.841A>C	ENSP00000484546.1:p.Met281Leu
NM_000391.3:c.841A>C	NP_000382.3:p.Met281Leu
NM_000391.4:c.841A>C MANE Select	NP_000382.3:p.Met281Leu