Canonical Allele Identifier: CA2612257204

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615408-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615408C>G , CM000673.2:g.6615408C>G	GRCh38
NC_000011.9:g.6636639C>G , CM000673.1:g.6636639C>G	GRCh37
NC_000011.8:g.6593215C>G	NCBI36
NG_008653.1:g.9054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+34G>C	ENSP00000507321.1:n.1152+34G>C
ENST00000299427.12:c.1266+34G>C MANE Select	ENSP00000299427.6:n.1266+34G>C
ENST00000436873.7:c.503+34G>C
ENST00000524611.2:n.48G>C
ENST00000524924.2:n.386+34G>C
ENST00000533371.6:c.537+34G>C	ENSP00000437066.1:n.537+34G>C
ENST00000642892.1:c.537+34G>C	ENSP00000494165.1:n.537+34G>C
ENST00000643342.1:c.339+34G>C
ENST00000643439.1:c.*1006+34G>C	ENSP00000495849.1:n.*1006+34G>C
ENST00000643479.1:n.1452+34G>C
ENST00000643516.1:c.775+34G>C
ENST00000644218.1:c.1077+34G>C	ENSP00000493574.1:n.1077+34G>C
ENST00000644683.1:c.*719+34G>C	ENSP00000494085.1:n.*719+34G>C
ENST00000644810.1:c.987+34G>C	ENSP00000495895.1:n.987+34G>C
ENST00000644831.1:n.1442+34G>C
ENST00000644933.1:c.*132+34G>C	ENSP00000496133.1:n.*132+34G>C
ENST00000645285.1:c.*132+34G>C	ENSP00000495058.1:n.*132+34G>C
ENST00000645331.1:n.2471+34G>C
ENST00000645620.1:c.537+34G>C	ENSP00000493657.1:n.537+34G>C
ENST00000646691.1:n.1075G>C
ENST00000646777.1:n.1599+34G>C
ENST00000647016.1:n.1746+34G>C
ENST00000647152.1:c.537+34G>C	ENSP00000495893.1:n.537+34G>C
ENST00000647209.1:c.*1135+34G>C	ENSP00000495558.1:n.*1135+34G>C
ENST00000647346.1:n.2286+34G>C
ENST00000299427.10:c.1266+34G>C	ENSP00000299427.6:n.1266+34G>C
ENST00000524611.1:n.66G>C
ENST00000524924.1:n.221+34G>C
ENST00000532191.1:n.319+34G>C
ENST00000533371.5:c.537+34G>C	ENSP00000437066.1:n.537+34G>C
ENST00000611494.4:c.1266+34G>C	ENSP00000484546.1:n.1266+34G>C
NM_000391.3:c.1266+34G>C	NP_000382.3:n.1266+34G>C
NM_000391.4:c.1266+34G>C MANE Select	NP_000382.3:n.1266+34G>C