Canonical Allele Identifier: CA597439704

Gene: TPP1

Linked Data

• dbSNP Id: rs1268722919
• gnomAD v2: 11-6638173-T-C
• gnomAD v3: 11-6616942-T-C
• gnomAD v4: 11-6616942-T-C
• MyVariant Identifiers: chr11:g.6638173T>C (hg19) ; chr11:g.6616942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616942T>C , CM000673.2:g.6616942T>C	GRCh38
NC_000011.9:g.6638173T>C , CM000673.1:g.6638173T>C	GRCh37
NC_000011.8:g.6594749T>C	NCBI36
NG_008653.1:g.7520A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.573+33A>G	ENSP00000507321.1:n.573+33A>G
ENST00000299427.12:c.687+33A>G MANE Select	ENSP00000299427.6:n.687+33A>G
ENST00000436873.7:c.312+359A>G
ENST00000524788.2:n.1846+33A>G
ENST00000524903.2:n.1962+33A>G
ENST00000528807.2:n.343+33A>G
ENST00000530040.2:n.479+417A>G
ENST00000533371.6:c.-43+33A>G	ENSP00000437066.1:n.-43+33A>G
ENST00000642892.1:c.-43+33A>G	ENSP00000494165.1:n.-43+33A>G
ENST00000643439.1:c.*427+33A>G	ENSP00000495849.1:n.*427+33A>G
ENST00000643479.1:n.716+33A>G
ENST00000643516.1:c.395+359A>G
ENST00000644151.1:n.2126+33A>G
ENST00000644218.1:c.687+33A>G	ENSP00000493574.1:n.687+33A>G
ENST00000644683.1:c.*140+33A>G	ENSP00000494085.1:n.*140+33A>G
ENST00000644810.1:c.408+33A>G	ENSP00000495895.1:n.408+33A>G
ENST00000644831.1:n.863+33A>G
ENST00000644933.1:c.-43+33A>G	ENSP00000496133.1:n.-43+33A>G
ENST00000645020.1:n.1895A>G
ENST00000645285.1:c.-43+33A>G	ENSP00000495058.1:n.-43+33A>G
ENST00000645331.1:n.1053+33A>G
ENST00000645620.1:c.-43+33A>G	ENSP00000493657.1:n.-43+33A>G
ENST00000646777.1:n.863+33A>G
ENST00000647016.1:n.1167+33A>G
ENST00000647152.1:c.-43+33A>G	ENSP00000495893.1:n.-43+33A>G
ENST00000647209.1:c.*556+33A>G	ENSP00000495558.1:n.*556+33A>G
ENST00000647346.1:n.1707+33A>G
ENST00000299427.10:c.687+33A>G	ENSP00000299427.6:n.687+33A>G
ENST00000436873.6:c.450+417A>G	ENSP00000398136.2:n.450+417A>G
ENST00000524788.1:n.387+33A>G
ENST00000528807.1:n.237+33A>G
ENST00000533371.5:c.-43+33A>G	ENSP00000437066.1:n.-43+33A>G
ENST00000611494.4:c.687+33A>G	ENSP00000484546.1:n.687+33A>G
NM_000391.3:c.687+33A>G	NP_000382.3:n.687+33A>G
NM_000391.4:c.687+33A>G MANE Select	NP_000382.3:n.687+33A>G