Canonical Allele Identifier: CA379475610

Gene: TPP1

Linked Data

• ClinVar Variation Id: 939167
• ClinVar RCV Id: RCV001208515 ; RCV001828670
• dbSNP Id: rs1488047336
• gnomAD v2: 11-6638358-T-A
• gnomAD v4: 11-6617127-T-A
• COSMIC: COSM1230159
• MyVariant Identifiers: chr11:g.6638358T>A (hg19) ; chr11:g.6617127T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617127T>A , CM000673.2:g.6617127T>A	GRCh38
NC_000011.9:g.6638358T>A , CM000673.1:g.6638358T>A	GRCh37
NC_000011.8:g.6594934T>A	NCBI36
NG_008653.1:g.7335A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.421A>T	ENSP00000507321.1:p.Thr141Ser
ENST00000299427.12:c.535A>T MANE Select	ENSP00000299427.6:p.Thr179Ser
ENST00000428886.7:n.770A>T
ENST00000436873.7:c.312+174A>T
ENST00000524788.2:n.1694A>T
ENST00000524903.2:n.1810A>T
ENST00000528807.2:n.191A>T
ENST00000530040.2:n.479+232A>T
ENST00000533371.6:c.-195A>T	ENSP00000437066.1:n.-195A>T
ENST00000534644.6:n.483A>T
ENST00000642892.1:c.-195A>T	ENSP00000494165.1:n.-195A>T
ENST00000643439.1:c.*275A>T	ENSP00000495849.1:n.*275A>T
ENST00000643479.1:n.564A>T
ENST00000643516.1:c.395+174A>T
ENST00000644151.1:n.1974A>T
ENST00000644218.1:c.535A>T	ENSP00000493574.1:p.Thr179Ser
ENST00000644683.1:c.477A>T	ENSP00000494085.1:p.Gln159His
ENST00000644810.1:c.256A>T	ENSP00000495895.1:p.Thr86Ser
ENST00000644831.1:n.711A>T
ENST00000644933.1:c.-195A>T	ENSP00000496133.1:n.-195A>T
ENST00000645020.1:n.1710A>T
ENST00000645285.1:c.-195A>T	ENSP00000495058.1:n.-195A>T
ENST00000645331.1:n.901A>T
ENST00000645620.1:c.-195A>T	ENSP00000493657.1:n.-195A>T
ENST00000646777.1:n.711A>T
ENST00000647016.1:n.1015A>T
ENST00000647152.1:c.-195A>T	ENSP00000495893.1:n.-195A>T
ENST00000647209.1:c.*404A>T	ENSP00000495558.1:n.*404A>T
ENST00000647346.1:n.1555A>T
ENST00000299427.10:c.535A>T	ENSP00000299427.6:p.Thr179Ser
ENST00000428886.6:n.704A>T
ENST00000436873.6:c.450+232A>T	ENSP00000398136.2:n.450+232A>T
ENST00000524788.1:n.235A>T
ENST00000528571.5:c.*275A>T	ENSP00000434647.1:n.*275A>T
ENST00000528807.1:n.85A>T
ENST00000533371.5:c.-195A>T	ENSP00000437066.1:n.-195A>T
ENST00000534644.5:n.520A>T
ENST00000611494.4:c.535A>T	ENSP00000484546.1:p.Thr179Ser
NM_000391.3:c.535A>T	NP_000382.3:p.Thr179Ser
NM_000391.4:c.535A>T MANE Select	NP_000382.3:p.Thr179Ser