Canonical Allele Identifier: CA379474961

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616704-C-A
• MyVariant Identifiers: chr11:g.6637935C>A (hg19) ; chr11:g.6616704C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616704C>A , CM000673.2:g.6616704C>A	GRCh38
NC_000011.9:g.6637935C>A , CM000673.1:g.6637935C>A	GRCh37
NC_000011.8:g.6594511C>A	NCBI36
NG_008653.1:g.7758G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.729G>T	ENSP00000507321.1:p.Met243Ile
ENST00000299427.12:c.843G>T MANE Select	ENSP00000299427.6:p.Met281Ile
ENST00000436873.7:c.312+597G>T
ENST00000524788.2:n.2002G>T
ENST00000524903.2:n.2118G>T
ENST00000528807.2:n.499G>T
ENST00000530040.2:n.480-201G>T
ENST00000533371.6:c.114G>T	ENSP00000437066.1:p.Met38Ile
ENST00000642892.1:c.114G>T	ENSP00000494165.1:p.Met38Ile
ENST00000643439.1:c.*583G>T	ENSP00000495849.1:n.*583G>T
ENST00000643479.1:n.872G>T
ENST00000643516.1:c.396-201G>T
ENST00000644151.1:n.2282G>T
ENST00000644218.1:c.843G>T	ENSP00000493574.1:p.Met281Ile
ENST00000644683.1:c.*296G>T	ENSP00000494085.1:n.*296G>T
ENST00000644810.1:c.564G>T	ENSP00000495895.1:p.Met188Ile
ENST00000644831.1:n.1019G>T
ENST00000644933.1:c.114G>T	ENSP00000496133.1:p.Met38Ile
ENST00000645020.1:n.2133G>T
ENST00000645285.1:c.114G>T	ENSP00000495058.1:p.Met38Ile
ENST00000645331.1:n.1209G>T
ENST00000645620.1:c.114G>T	ENSP00000493657.1:p.Met38Ile
ENST00000646777.1:n.1019G>T
ENST00000647016.1:n.1323G>T
ENST00000647152.1:c.114G>T	ENSP00000495893.1:p.Met38Ile
ENST00000647209.1:c.*712G>T	ENSP00000495558.1:n.*712G>T
ENST00000647346.1:n.1863G>T
ENST00000299427.10:c.843G>T	ENSP00000299427.6:p.Met281Ile
ENST00000436873.6:c.451-201G>T	ENSP00000398136.2:n.451-201G>T
ENST00000524788.1:n.543G>T
ENST00000528807.1:n.393G>T
ENST00000533371.5:c.114G>T	ENSP00000437066.1:p.Met38Ile
ENST00000611494.4:c.843G>T	ENSP00000484546.1:p.Met281Ile
NM_000391.3:c.843G>T	NP_000382.3:p.Met281Ile
NM_000391.4:c.843G>T MANE Select	NP_000382.3:p.Met281Ile