Canonical Allele Identifier: CA379475601

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2016273
• ClinVar RCV Id: RCV002843814
• MyVariant Identifiers: chr11:g.6638352A>T (hg19) ; chr11:g.6617121A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617121A>T , CM000673.2:g.6617121A>T	GRCh38
NC_000011.9:g.6638352A>T , CM000673.1:g.6638352A>T	GRCh37
NC_000011.8:g.6594928A>T	NCBI36
NG_008653.1:g.7341T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.427T>A	ENSP00000507321.1:p.Ser143Thr
ENST00000299427.12:c.541T>A MANE Select	ENSP00000299427.6:p.Ser181Thr
ENST00000428886.7:n.776T>A
ENST00000436873.7:c.312+180T>A
ENST00000524788.2:n.1700T>A
ENST00000524903.2:n.1816T>A
ENST00000528807.2:n.197T>A
ENST00000530040.2:n.479+238T>A
ENST00000533371.6:c.-189T>A	ENSP00000437066.1:n.-189T>A
ENST00000534644.6:n.489T>A
ENST00000642892.1:c.-189T>A	ENSP00000494165.1:n.-189T>A
ENST00000643439.1:c.*281T>A	ENSP00000495849.1:n.*281T>A
ENST00000643479.1:n.570T>A
ENST00000643516.1:c.395+180T>A
ENST00000644151.1:n.1980T>A
ENST00000644218.1:c.541T>A	ENSP00000493574.1:p.Ser181Thr
ENST00000644683.1:c.483T>A	ENSP00000494085.1:p.His161Gln
ENST00000644810.1:c.262T>A	ENSP00000495895.1:p.Ser88Thr
ENST00000644831.1:n.717T>A
ENST00000644933.1:c.-189T>A	ENSP00000496133.1:n.-189T>A
ENST00000645020.1:n.1716T>A
ENST00000645285.1:c.-189T>A	ENSP00000495058.1:n.-189T>A
ENST00000645331.1:n.907T>A
ENST00000645620.1:c.-189T>A	ENSP00000493657.1:n.-189T>A
ENST00000646777.1:n.717T>A
ENST00000647016.1:n.1021T>A
ENST00000647152.1:c.-189T>A	ENSP00000495893.1:n.-189T>A
ENST00000647209.1:c.*410T>A	ENSP00000495558.1:n.*410T>A
ENST00000647346.1:n.1561T>A
ENST00000299427.10:c.541T>A	ENSP00000299427.6:p.Ser181Thr
ENST00000428886.6:n.710T>A
ENST00000436873.6:c.450+238T>A	ENSP00000398136.2:n.450+238T>A
ENST00000524788.1:n.241T>A
ENST00000528571.5:c.*281T>A	ENSP00000434647.1:n.*281T>A
ENST00000528807.1:n.91T>A
ENST00000533371.5:c.-189T>A	ENSP00000437066.1:n.-189T>A
ENST00000534644.5:n.526T>A
ENST00000611494.4:c.541T>A	ENSP00000484546.1:p.Ser181Thr
NM_000391.3:c.541T>A	NP_000382.3:p.Ser181Thr
NM_000391.4:c.541T>A MANE Select	NP_000382.3:p.Ser181Thr