Canonical Allele Identifier: CA2580084023

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1912183
• ClinVar RCV Id: RCV002578771
• gnomAD v4: 11-6617293-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617293G>A , CM000673.2:g.6617293G>A	GRCh38
NC_000011.9:g.6638524G>A , CM000673.1:g.6638524G>A	GRCh37
NC_000011.8:g.6595100G>A	NCBI36
NG_008653.1:g.7169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+8C>T	ENSP00000507321.1:n.394+8C>T
ENST00000299427.12:c.508+8C>T MANE Select	ENSP00000299427.6:n.508+8C>T
ENST00000428886.7:n.604C>T
ENST00000436873.7:c.312+8C>T
ENST00000524788.2:n.1528C>T
ENST00000524903.2:n.1644C>T
ENST00000528571.6:c.*256C>T	ENSP00000434647.1:n.*256C>T
ENST00000528807.2:n.164+8C>T
ENST00000530040.2:n.479+66C>T
ENST00000533371.6:c.-222+8C>T	ENSP00000437066.1:n.-222+8C>T
ENST00000534644.6:n.456+61C>T
ENST00000642892.1:c.-222+61C>T	ENSP00000494165.1:n.-222+61C>T
ENST00000643439.1:c.*248+8C>T	ENSP00000495849.1:n.*248+8C>T
ENST00000643479.1:n.537+8C>T
ENST00000643516.1:c.395+8C>T
ENST00000644151.1:n.1808C>T
ENST00000644218.1:c.508+8C>T	ENSP00000493574.1:n.508+8C>T
ENST00000644683.1:c.450+66C>T	ENSP00000494085.1:n.450+66C>T
ENST00000644810.1:c.230-140C>T	ENSP00000495895.1:n.230-140C>T
ENST00000644831.1:n.545C>T
ENST00000644933.1:c.-222+8C>T	ENSP00000496133.1:n.-222+8C>T
ENST00000645020.1:n.1544C>T
ENST00000645285.1:c.-222+8C>T	ENSP00000495058.1:n.-222+8C>T
ENST00000645331.1:n.735C>T
ENST00000645620.1:c.-222+66C>T	ENSP00000493657.1:n.-222+66C>T
ENST00000646777.1:n.545C>T
ENST00000647016.1:n.849C>T
ENST00000647152.1:c.-222+8C>T	ENSP00000495893.1:n.-222+8C>T
ENST00000647209.1:c.*377+8C>T	ENSP00000495558.1:n.*377+8C>T
ENST00000647346.1:n.1528+8C>T
ENST00000299427.10:c.508+8C>T	ENSP00000299427.6:n.508+8C>T
ENST00000428886.6:n.538C>T
ENST00000436873.6:c.450+66C>T	ENSP00000398136.2:n.450+66C>T
ENST00000524788.1:n.69C>T
ENST00000528571.5:c.*248+8C>T	ENSP00000434647.1:n.*248+8C>T
ENST00000533371.5:c.-222+8C>T	ENSP00000437066.1:n.-222+8C>T
ENST00000534644.5:n.493+8C>T
ENST00000611494.4:c.508+8C>T	ENSP00000484546.1:n.508+8C>T
NM_000391.3:c.508+8C>T	NP_000382.3:n.508+8C>T
NM_000391.4:c.508+8C>T MANE Select	NP_000382.3:n.508+8C>T