Canonical Allele Identifier: CA5858858

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1195097
• ClinVar RCV Id: RCV001558044
• dbSNP Id: rs546701146
• ExAC: 11:6638113 G / A
• gnomAD v2: 11-6638113-G-A
• gnomAD v3: 11-6616882-G-A
• gnomAD v4: 11-6616882-G-A
• MyVariant Identifiers: chr11:g.6638113G>A (hg19) ; chr11:g.6616882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616882G>A , CM000673.2:g.6616882G>A	GRCh38
NC_000011.9:g.6638113G>A , CM000673.1:g.6638113G>A	GRCh37
NC_000011.8:g.6594689G>A	NCBI36
NG_008653.1:g.7580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.574-23C>T	ENSP00000507321.1:n.574-23C>T
ENST00000299427.12:c.688-23C>T MANE Select	ENSP00000299427.6:n.688-23C>T
ENST00000436873.7:c.312+419C>T
ENST00000524788.2:n.1847-23C>T
ENST00000524903.2:n.1963-23C>T
ENST00000528807.2:n.344-23C>T
ENST00000530040.2:n.480-379C>T
ENST00000533371.6:c.-42-23C>T	ENSP00000437066.1:n.-42-23C>T
ENST00000642892.1:c.-42-23C>T	ENSP00000494165.1:n.-42-23C>T
ENST00000643439.1:c.*428-23C>T	ENSP00000495849.1:n.*428-23C>T
ENST00000643479.1:n.717-23C>T
ENST00000643516.1:c.396-379C>T
ENST00000644151.1:n.2127-23C>T
ENST00000644218.1:c.688-23C>T	ENSP00000493574.1:n.688-23C>T
ENST00000644683.1:c.*141-23C>T	ENSP00000494085.1:n.*141-23C>T
ENST00000644810.1:c.409-23C>T	ENSP00000495895.1:n.409-23C>T
ENST00000644831.1:n.864-23C>T
ENST00000644933.1:c.-42-23C>T	ENSP00000496133.1:n.-42-23C>T
ENST00000645020.1:n.1955C>T
ENST00000645285.1:c.-42-23C>T	ENSP00000495058.1:n.-42-23C>T
ENST00000645331.1:n.1054-23C>T
ENST00000645620.1:c.-42-23C>T	ENSP00000493657.1:n.-42-23C>T
ENST00000646777.1:n.864-23C>T
ENST00000647016.1:n.1168-23C>T
ENST00000647152.1:c.-42-23C>T	ENSP00000495893.1:n.-42-23C>T
ENST00000647209.1:c.*557-23C>T	ENSP00000495558.1:n.*557-23C>T
ENST00000647346.1:n.1708-23C>T
ENST00000299427.10:c.688-23C>T	ENSP00000299427.6:n.688-23C>T
ENST00000436873.6:c.451-379C>T	ENSP00000398136.2:n.451-379C>T
ENST00000524788.1:n.388-23C>T
ENST00000528807.1:n.238-23C>T
ENST00000533371.5:c.-42-23C>T	ENSP00000437066.1:n.-42-23C>T
ENST00000611494.4:c.688-23C>T	ENSP00000484546.1:n.688-23C>T
NM_000391.3:c.688-23C>T	NP_000382.3:n.688-23C>T
NM_000391.4:c.688-23C>T MANE Select	NP_000382.3:n.688-23C>T