Canonical Allele Identifier: CA2612255961

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617278-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617278C>T , CM000673.2:g.6617278C>T	GRCh38
NC_000011.9:g.6638509C>T , CM000673.1:g.6638509C>T	GRCh37
NC_000011.8:g.6595085C>T	NCBI36
NG_008653.1:g.7184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+23G>A	ENSP00000507321.1:n.394+23G>A
ENST00000299427.12:c.508+23G>A MANE Select	ENSP00000299427.6:n.508+23G>A
ENST00000428886.7:n.619G>A
ENST00000436873.7:c.312+23G>A
ENST00000524788.2:n.1543G>A
ENST00000524903.2:n.1659G>A
ENST00000528571.6:c.*271G>A	ENSP00000434647.1:n.*271G>A
ENST00000528807.2:n.164+23G>A
ENST00000530040.2:n.479+81G>A
ENST00000533371.6:c.-222+23G>A	ENSP00000437066.1:n.-222+23G>A
ENST00000534644.6:n.456+76G>A
ENST00000642892.1:c.-222+76G>A	ENSP00000494165.1:n.-222+76G>A
ENST00000643439.1:c.*248+23G>A	ENSP00000495849.1:n.*248+23G>A
ENST00000643479.1:n.537+23G>A
ENST00000643516.1:c.395+23G>A
ENST00000644151.1:n.1823G>A
ENST00000644218.1:c.508+23G>A	ENSP00000493574.1:n.508+23G>A
ENST00000644683.1:c.450+81G>A	ENSP00000494085.1:n.450+81G>A
ENST00000644810.1:c.230-125G>A	ENSP00000495895.1:n.230-125G>A
ENST00000644831.1:n.560G>A
ENST00000644933.1:c.-222+23G>A	ENSP00000496133.1:n.-222+23G>A
ENST00000645020.1:n.1559G>A
ENST00000645285.1:c.-222+23G>A	ENSP00000495058.1:n.-222+23G>A
ENST00000645331.1:n.750G>A
ENST00000645620.1:c.-222+81G>A	ENSP00000493657.1:n.-222+81G>A
ENST00000646777.1:n.560G>A
ENST00000647016.1:n.864G>A
ENST00000647152.1:c.-222+23G>A	ENSP00000495893.1:n.-222+23G>A
ENST00000647209.1:c.*377+23G>A	ENSP00000495558.1:n.*377+23G>A
ENST00000647346.1:n.1528+23G>A
ENST00000299427.10:c.508+23G>A	ENSP00000299427.6:n.508+23G>A
ENST00000428886.6:n.553G>A
ENST00000436873.6:c.450+81G>A	ENSP00000398136.2:n.450+81G>A
ENST00000524788.1:n.84G>A
ENST00000528571.5:c.*248+23G>A	ENSP00000434647.1:n.*248+23G>A
ENST00000533371.5:c.-222+23G>A	ENSP00000437066.1:n.-222+23G>A
ENST00000534644.5:n.493+23G>A
ENST00000611494.4:c.508+23G>A	ENSP00000484546.1:n.508+23G>A
NM_000391.3:c.508+23G>A	NP_000382.3:n.508+23G>A
NM_000391.4:c.508+23G>A MANE Select	NP_000382.3:n.508+23G>A