Canonical Allele Identifier: CA5858691

Gene: TPP1

Linked Data

• dbSNP Id: rs762276546
• ExAC: 11:6636628 C / T
• gnomAD v2: 11-6636628-C-T
• gnomAD v4: 11-6615397-C-T
• MyVariant Identifiers: chr11:g.6636628C>T (hg19) ; chr11:g.6615397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615397C>T , CM000673.2:g.6615397C>T	GRCh38
NC_000011.9:g.6636628C>T , CM000673.1:g.6636628C>T	GRCh37
NC_000011.8:g.6593204C>T	NCBI36
NG_008653.1:g.9065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+45G>A	ENSP00000507321.1:n.1152+45G>A
ENST00000299427.12:c.1266+45G>A MANE Select	ENSP00000299427.6:n.1266+45G>A
ENST00000436873.7:c.503+45G>A
ENST00000524611.2:n.59G>A
ENST00000524924.2:n.386+45G>A
ENST00000533371.6:c.537+45G>A	ENSP00000437066.1:n.537+45G>A
ENST00000642892.1:c.537+45G>A	ENSP00000494165.1:n.537+45G>A
ENST00000643342.1:c.339+45G>A
ENST00000643439.1:c.*1006+45G>A	ENSP00000495849.1:n.*1006+45G>A
ENST00000643479.1:n.1452+45G>A
ENST00000643516.1:c.775+45G>A
ENST00000644218.1:c.1077+45G>A	ENSP00000493574.1:n.1077+45G>A
ENST00000644683.1:c.*719+45G>A	ENSP00000494085.1:n.*719+45G>A
ENST00000644810.1:c.987+45G>A	ENSP00000495895.1:n.987+45G>A
ENST00000644831.1:n.1442+45G>A
ENST00000644933.1:c.*132+45G>A	ENSP00000496133.1:n.*132+45G>A
ENST00000645285.1:c.*132+45G>A	ENSP00000495058.1:n.*132+45G>A
ENST00000645331.1:n.2471+45G>A
ENST00000645620.1:c.537+45G>A	ENSP00000493657.1:n.537+45G>A
ENST00000646691.1:n.1086G>A
ENST00000646777.1:n.1599+45G>A
ENST00000647016.1:n.1746+45G>A
ENST00000647152.1:c.537+45G>A	ENSP00000495893.1:n.537+45G>A
ENST00000647209.1:c.*1135+45G>A	ENSP00000495558.1:n.*1135+45G>A
ENST00000647346.1:n.2286+45G>A
ENST00000299427.10:c.1266+45G>A	ENSP00000299427.6:n.1266+45G>A
ENST00000524611.1:n.77G>A
ENST00000524924.1:n.221+45G>A
ENST00000532191.1:n.319+45G>A
ENST00000533371.5:c.537+45G>A	ENSP00000437066.1:n.537+45G>A
ENST00000611494.4:c.1266+45G>A	ENSP00000484546.1:n.1266+45G>A
NM_000391.3:c.1266+45G>A	NP_000382.3:n.1266+45G>A
NM_000391.4:c.1266+45G>A MANE Select	NP_000382.3:n.1266+45G>A