Canonical Allele Identifier: CA472922643

Gene: TPP1

Linked Data

• dbSNP Id: rs1347831222
• MyVariant Identifiers: chr11:g.6637893A>C (hg19) ; chr11:g.6616662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616662A>C , CM000673.2:g.6616662A>C	GRCh38
NC_000011.9:g.6637893A>C , CM000673.1:g.6637893A>C	GRCh37
NC_000011.8:g.6594469A>C	NCBI36
NG_008653.1:g.7800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.771T>G	ENSP00000507321.1:p.Pro257=
ENST00000299427.12:c.885T>G MANE Select	ENSP00000299427.6:p.Pro295=
ENST00000436873.7:c.313-588T>G
ENST00000524788.2:n.2044T>G
ENST00000524903.2:n.2160T>G
ENST00000528807.2:n.541T>G
ENST00000530040.2:n.480-159T>G
ENST00000533371.6:c.156T>G	ENSP00000437066.1:p.Pro52=
ENST00000642892.1:c.156T>G	ENSP00000494165.1:p.Pro52=
ENST00000643439.1:c.*625T>G	ENSP00000495849.1:n.*625T>G
ENST00000643479.1:n.914T>G
ENST00000643516.1:c.396-159T>G
ENST00000644151.1:n.2324T>G
ENST00000644218.1:c.885T>G	ENSP00000493574.1:p.Pro295=
ENST00000644683.1:c.*338T>G	ENSP00000494085.1:n.*338T>G
ENST00000644810.1:c.606T>G	ENSP00000495895.1:p.Pro202=
ENST00000644831.1:n.1061T>G
ENST00000644933.1:c.156T>G	ENSP00000496133.1:p.Pro52=
ENST00000645020.1:n.2175T>G
ENST00000645285.1:c.156T>G	ENSP00000495058.1:p.Pro52=
ENST00000645331.1:n.1251T>G
ENST00000645620.1:c.156T>G	ENSP00000493657.1:p.Pro52=
ENST00000646777.1:n.1061T>G
ENST00000647016.1:n.1365T>G
ENST00000647152.1:c.156T>G	ENSP00000495893.1:p.Pro52=
ENST00000647209.1:c.*754T>G	ENSP00000495558.1:n.*754T>G
ENST00000647346.1:n.1905T>G
ENST00000299427.10:c.885T>G	ENSP00000299427.6:p.Pro295=
ENST00000436873.6:c.451-159T>G	ENSP00000398136.2:n.451-159T>G
ENST00000528807.1:n.435T>G
ENST00000533371.5:c.156T>G	ENSP00000437066.1:p.Pro52=
ENST00000611494.4:c.885T>G	ENSP00000484546.1:p.Pro295=
NM_000391.3:c.885T>G	NP_000382.3:p.Pro295=
NM_000391.4:c.885T>G MANE Select	NP_000382.3:p.Pro295=