Canonical Allele Identifier: CA5858859

Gene: TPP1

Linked Data

• dbSNP Id: rs746012191
• ExAC: 11:6638116 C / T
• gnomAD v2: 11-6638116-C-T
• gnomAD v3: 11-6616885-C-T
• gnomAD v4: 11-6616885-C-T
• MyVariant Identifiers: chr11:g.6638116C>T (hg19) ; chr11:g.6616885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616885C>T , CM000673.2:g.6616885C>T	GRCh38
NC_000011.9:g.6638116C>T , CM000673.1:g.6638116C>T	GRCh37
NC_000011.8:g.6594692C>T	NCBI36
NG_008653.1:g.7577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.574-26G>A	ENSP00000507321.1:n.574-26G>A
ENST00000299427.12:c.688-26G>A MANE Select	ENSP00000299427.6:n.688-26G>A
ENST00000436873.7:c.312+416G>A
ENST00000524788.2:n.1847-26G>A
ENST00000524903.2:n.1963-26G>A
ENST00000528807.2:n.344-26G>A
ENST00000530040.2:n.480-382G>A
ENST00000533371.6:c.-42-26G>A	ENSP00000437066.1:n.-42-26G>A
ENST00000642892.1:c.-42-26G>A	ENSP00000494165.1:n.-42-26G>A
ENST00000643439.1:c.*428-26G>A	ENSP00000495849.1:n.*428-26G>A
ENST00000643479.1:n.717-26G>A
ENST00000643516.1:c.396-382G>A
ENST00000644151.1:n.2127-26G>A
ENST00000644218.1:c.688-26G>A	ENSP00000493574.1:n.688-26G>A
ENST00000644683.1:c.*141-26G>A	ENSP00000494085.1:n.*141-26G>A
ENST00000644810.1:c.409-26G>A	ENSP00000495895.1:n.409-26G>A
ENST00000644831.1:n.864-26G>A
ENST00000644933.1:c.-42-26G>A	ENSP00000496133.1:n.-42-26G>A
ENST00000645020.1:n.1952G>A
ENST00000645285.1:c.-42-26G>A	ENSP00000495058.1:n.-42-26G>A
ENST00000645331.1:n.1054-26G>A
ENST00000645620.1:c.-42-26G>A	ENSP00000493657.1:n.-42-26G>A
ENST00000646777.1:n.864-26G>A
ENST00000647016.1:n.1168-26G>A
ENST00000647152.1:c.-42-26G>A	ENSP00000495893.1:n.-42-26G>A
ENST00000647209.1:c.*557-26G>A	ENSP00000495558.1:n.*557-26G>A
ENST00000647346.1:n.1708-26G>A
ENST00000299427.10:c.688-26G>A	ENSP00000299427.6:n.688-26G>A
ENST00000436873.6:c.451-382G>A	ENSP00000398136.2:n.451-382G>A
ENST00000524788.1:n.388-26G>A
ENST00000528807.1:n.238-26G>A
ENST00000533371.5:c.-42-26G>A	ENSP00000437066.1:n.-42-26G>A
ENST00000611494.4:c.688-26G>A	ENSP00000484546.1:n.688-26G>A
NM_000391.3:c.688-26G>A	NP_000382.3:n.688-26G>A
NM_000391.4:c.688-26G>A MANE Select	NP_000382.3:n.688-26G>A