Canonical Allele Identifier: CA2612255968

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617284-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617284C>A , CM000673.2:g.6617284C>A	GRCh38
NC_000011.9:g.6638515C>A , CM000673.1:g.6638515C>A	GRCh37
NC_000011.8:g.6595091C>A	NCBI36
NG_008653.1:g.7178G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+17G>T	ENSP00000507321.1:n.394+17G>T
ENST00000299427.12:c.508+17G>T MANE Select	ENSP00000299427.6:n.508+17G>T
ENST00000428886.7:n.613G>T
ENST00000436873.7:c.312+17G>T
ENST00000524788.2:n.1537G>T
ENST00000524903.2:n.1653G>T
ENST00000528571.6:c.*265G>T	ENSP00000434647.1:n.*265G>T
ENST00000528807.2:n.164+17G>T
ENST00000530040.2:n.479+75G>T
ENST00000533371.6:c.-222+17G>T	ENSP00000437066.1:n.-222+17G>T
ENST00000534644.6:n.456+70G>T
ENST00000642892.1:c.-222+70G>T	ENSP00000494165.1:n.-222+70G>T
ENST00000643439.1:c.*248+17G>T	ENSP00000495849.1:n.*248+17G>T
ENST00000643479.1:n.537+17G>T
ENST00000643516.1:c.395+17G>T
ENST00000644151.1:n.1817G>T
ENST00000644218.1:c.508+17G>T	ENSP00000493574.1:n.508+17G>T
ENST00000644683.1:c.450+75G>T	ENSP00000494085.1:n.450+75G>T
ENST00000644810.1:c.230-131G>T	ENSP00000495895.1:n.230-131G>T
ENST00000644831.1:n.554G>T
ENST00000644933.1:c.-222+17G>T	ENSP00000496133.1:n.-222+17G>T
ENST00000645020.1:n.1553G>T
ENST00000645285.1:c.-222+17G>T	ENSP00000495058.1:n.-222+17G>T
ENST00000645331.1:n.744G>T
ENST00000645620.1:c.-222+75G>T	ENSP00000493657.1:n.-222+75G>T
ENST00000646777.1:n.554G>T
ENST00000647016.1:n.858G>T
ENST00000647152.1:c.-222+17G>T	ENSP00000495893.1:n.-222+17G>T
ENST00000647209.1:c.*377+17G>T	ENSP00000495558.1:n.*377+17G>T
ENST00000647346.1:n.1528+17G>T
ENST00000299427.10:c.508+17G>T	ENSP00000299427.6:n.508+17G>T
ENST00000428886.6:n.547G>T
ENST00000436873.6:c.450+75G>T	ENSP00000398136.2:n.450+75G>T
ENST00000524788.1:n.78G>T
ENST00000528571.5:c.*248+17G>T	ENSP00000434647.1:n.*248+17G>T
ENST00000533371.5:c.-222+17G>T	ENSP00000437066.1:n.-222+17G>T
ENST00000534644.5:n.493+17G>T
ENST00000611494.4:c.508+17G>T	ENSP00000484546.1:n.508+17G>T
NM_000391.3:c.508+17G>T	NP_000382.3:n.508+17G>T
NM_000391.4:c.508+17G>T MANE Select	NP_000382.3:n.508+17G>T