Canonical Allele Identifier: CA934783965

Gene: TPP1

Linked Data

• dbSNP Id: rs1245658425
• gnomAD v3: 11-6616941-C-T
• gnomAD v4: 11-6616941-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616941C>T , CM000673.2:g.6616941C>T	GRCh38
NC_000011.9:g.6638172C>T , CM000673.1:g.6638172C>T	GRCh37
NC_000011.8:g.6594748C>T	NCBI36
NG_008653.1:g.7521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.573+34G>A	ENSP00000507321.1:n.573+34G>A
ENST00000299427.12:c.687+34G>A MANE Select	ENSP00000299427.6:n.687+34G>A
ENST00000436873.7:c.312+360G>A
ENST00000524788.2:n.1846+34G>A
ENST00000524903.2:n.1962+34G>A
ENST00000528807.2:n.343+34G>A
ENST00000530040.2:n.479+418G>A
ENST00000533371.6:c.-43+34G>A	ENSP00000437066.1:n.-43+34G>A
ENST00000642892.1:c.-43+34G>A	ENSP00000494165.1:n.-43+34G>A
ENST00000643439.1:c.*427+34G>A	ENSP00000495849.1:n.*427+34G>A
ENST00000643479.1:n.716+34G>A
ENST00000643516.1:c.395+360G>A
ENST00000644151.1:n.2126+34G>A
ENST00000644218.1:c.687+34G>A	ENSP00000493574.1:n.687+34G>A
ENST00000644683.1:c.*140+34G>A	ENSP00000494085.1:n.*140+34G>A
ENST00000644810.1:c.408+34G>A	ENSP00000495895.1:n.408+34G>A
ENST00000644831.1:n.863+34G>A
ENST00000644933.1:c.-43+34G>A	ENSP00000496133.1:n.-43+34G>A
ENST00000645020.1:n.1896G>A
ENST00000645285.1:c.-43+34G>A	ENSP00000495058.1:n.-43+34G>A
ENST00000645331.1:n.1053+34G>A
ENST00000645620.1:c.-43+34G>A	ENSP00000493657.1:n.-43+34G>A
ENST00000646777.1:n.863+34G>A
ENST00000647016.1:n.1167+34G>A
ENST00000647152.1:c.-43+34G>A	ENSP00000495893.1:n.-43+34G>A
ENST00000647209.1:c.*556+34G>A	ENSP00000495558.1:n.*556+34G>A
ENST00000647346.1:n.1707+34G>A
ENST00000299427.10:c.687+34G>A	ENSP00000299427.6:n.687+34G>A
ENST00000436873.6:c.450+418G>A	ENSP00000398136.2:n.450+418G>A
ENST00000524788.1:n.387+34G>A
ENST00000528807.1:n.237+34G>A
ENST00000533371.5:c.-43+34G>A	ENSP00000437066.1:n.-43+34G>A
ENST00000611494.4:c.687+34G>A	ENSP00000484546.1:n.687+34G>A
NM_000391.3:c.687+34G>A	NP_000382.3:n.687+34G>A
NM_000391.4:c.687+34G>A MANE Select	NP_000382.3:n.687+34G>A