Canonical Allele Identifier: CA5858863

Gene: TPP1

Linked Data

• dbSNP Id: rs764309679
• ExAC: 11:6638124 C / T
• gnomAD v2: 11-6638124-C-T
• gnomAD v3: 11-6616893-C-T
• gnomAD v4: 11-6616893-C-T
• MyVariant Identifiers: chr11:g.6638124C>T (hg19) ; chr11:g.6616893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616893C>T , CM000673.2:g.6616893C>T	GRCh38
NC_000011.9:g.6638124C>T , CM000673.1:g.6638124C>T	GRCh37
NC_000011.8:g.6594700C>T	NCBI36
NG_008653.1:g.7569G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.574-34G>A	ENSP00000507321.1:n.574-34G>A
ENST00000299427.12:c.688-34G>A MANE Select	ENSP00000299427.6:n.688-34G>A
ENST00000436873.7:c.312+408G>A
ENST00000524788.2:n.1847-34G>A
ENST00000524903.2:n.1963-34G>A
ENST00000528807.2:n.344-34G>A
ENST00000530040.2:n.480-390G>A
ENST00000533371.6:c.-42-34G>A	ENSP00000437066.1:n.-42-34G>A
ENST00000642892.1:c.-42-34G>A	ENSP00000494165.1:n.-42-34G>A
ENST00000643439.1:c.*428-34G>A	ENSP00000495849.1:n.*428-34G>A
ENST00000643479.1:n.717-34G>A
ENST00000643516.1:c.396-390G>A
ENST00000644151.1:n.2127-34G>A
ENST00000644218.1:c.688-34G>A	ENSP00000493574.1:n.688-34G>A
ENST00000644683.1:c.*141-34G>A	ENSP00000494085.1:n.*141-34G>A
ENST00000644810.1:c.409-34G>A	ENSP00000495895.1:n.409-34G>A
ENST00000644831.1:n.864-34G>A
ENST00000644933.1:c.-42-34G>A	ENSP00000496133.1:n.-42-34G>A
ENST00000645020.1:n.1944G>A
ENST00000645285.1:c.-42-34G>A	ENSP00000495058.1:n.-42-34G>A
ENST00000645331.1:n.1054-34G>A
ENST00000645620.1:c.-42-34G>A	ENSP00000493657.1:n.-42-34G>A
ENST00000646777.1:n.864-34G>A
ENST00000647016.1:n.1168-34G>A
ENST00000647152.1:c.-42-34G>A	ENSP00000495893.1:n.-42-34G>A
ENST00000647209.1:c.*557-34G>A	ENSP00000495558.1:n.*557-34G>A
ENST00000647346.1:n.1708-34G>A
ENST00000299427.10:c.688-34G>A	ENSP00000299427.6:n.688-34G>A
ENST00000436873.6:c.451-390G>A	ENSP00000398136.2:n.451-390G>A
ENST00000524788.1:n.388-34G>A
ENST00000528807.1:n.238-34G>A
ENST00000533371.5:c.-42-34G>A	ENSP00000437066.1:n.-42-34G>A
ENST00000611494.4:c.688-34G>A	ENSP00000484546.1:n.688-34G>A
NM_000391.3:c.688-34G>A	NP_000382.3:n.688-34G>A
NM_000391.4:c.688-34G>A MANE Select	NP_000382.3:n.688-34G>A