Canonical Allele Identifier: CA379475114

Gene: TPP1

Linked Data

• dbSNP Id: rs1855592622
• gnomAD v3: 11-6616785-C-A
• gnomAD v4: 11-6616785-C-A
• MyVariant Identifiers: chr11:g.6638016C>A (hg19) ; chr11:g.6616785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616785C>A , CM000673.2:g.6616785C>A	GRCh38
NC_000011.9:g.6638016C>A , CM000673.1:g.6638016C>A	GRCh37
NC_000011.8:g.6594592C>A	NCBI36
NG_008653.1:g.7677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.648G>T	ENSP00000507321.1:p.Gln216His
ENST00000299427.12:c.762G>T MANE Select	ENSP00000299427.6:p.Gln254His
ENST00000436873.7:c.312+516G>T
ENST00000524788.2:n.1921G>T
ENST00000524903.2:n.2037G>T
ENST00000528807.2:n.418G>T
ENST00000530040.2:n.480-282G>T
ENST00000533371.6:c.33G>T	ENSP00000437066.1:p.Gln11His
ENST00000642892.1:c.33G>T	ENSP00000494165.1:p.Gln11His
ENST00000643439.1:c.*502G>T	ENSP00000495849.1:n.*502G>T
ENST00000643479.1:n.791G>T
ENST00000643516.1:c.396-282G>T
ENST00000644151.1:n.2201G>T
ENST00000644218.1:c.762G>T	ENSP00000493574.1:p.Gln254His
ENST00000644683.1:c.*215G>T	ENSP00000494085.1:n.*215G>T
ENST00000644810.1:c.483G>T	ENSP00000495895.1:p.Gln161His
ENST00000644831.1:n.938G>T
ENST00000644933.1:c.33G>T	ENSP00000496133.1:p.Gln11His
ENST00000645020.1:n.2052G>T
ENST00000645285.1:c.33G>T	ENSP00000495058.1:p.Gln11His
ENST00000645331.1:n.1128G>T
ENST00000645620.1:c.33G>T	ENSP00000493657.1:p.Gln11His
ENST00000646777.1:n.938G>T
ENST00000647016.1:n.1242G>T
ENST00000647152.1:c.33G>T	ENSP00000495893.1:p.Gln11His
ENST00000647209.1:c.*631G>T	ENSP00000495558.1:n.*631G>T
ENST00000647346.1:n.1782G>T
ENST00000299427.10:c.762G>T	ENSP00000299427.6:p.Gln254His
ENST00000436873.6:c.451-282G>T	ENSP00000398136.2:n.451-282G>T
ENST00000524788.1:n.462G>T
ENST00000528807.1:n.312G>T
ENST00000533371.5:c.33G>T	ENSP00000437066.1:p.Gln11His
ENST00000611494.4:c.762G>T	ENSP00000484546.1:p.Gln254His
NM_000391.3:c.762G>T	NP_000382.3:p.Gln254His
NM_000391.4:c.762G>T MANE Select	NP_000382.3:p.Gln254His