Canonical Allele Identifier: CA379475756

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1993084
• ClinVar RCV Id: RCV002801133
• MyVariant Identifiers: chr11:g.6638566C>A (hg19) ; chr11:g.6617335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617335C>A , CM000673.2:g.6617335C>A	GRCh38
NC_000011.9:g.6638566C>A , CM000673.1:g.6638566C>A	GRCh37
NC_000011.8:g.6595142C>A	NCBI36
NG_008653.1:g.7127G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.360G>T	ENSP00000507321.1:p.Gln120His
ENST00000299427.12:c.474G>T MANE Select	ENSP00000299427.6:p.Gln158His
ENST00000428886.7:n.562G>T
ENST00000436873.7:c.278G>T
ENST00000524788.2:n.1486G>T
ENST00000524903.2:n.1602G>T
ENST00000528571.6:c.*214G>T	ENSP00000434647.1:n.*214G>T
ENST00000528807.2:n.130G>T
ENST00000530040.2:n.479+24G>T
ENST00000533371.6:c.-256G>T	ENSP00000437066.1:n.-256G>T
ENST00000534644.6:n.456+19G>T
ENST00000642892.1:c.-222+19G>T	ENSP00000494165.1:n.-222+19G>T
ENST00000643439.1:c.*214G>T	ENSP00000495849.1:n.*214G>T
ENST00000643479.1:n.503G>T
ENST00000643516.1:c.361G>T
ENST00000644151.1:n.1766G>T
ENST00000644218.1:c.474G>T	ENSP00000493574.1:p.Gln158His
ENST00000644683.1:c.450+24G>T	ENSP00000494085.1:n.450+24G>T
ENST00000644810.1:c.230-182G>T	ENSP00000495895.1:n.230-182G>T
ENST00000644831.1:n.503G>T
ENST00000644933.1:c.-256G>T	ENSP00000496133.1:n.-256G>T
ENST00000645020.1:n.1502G>T
ENST00000645285.1:c.-256G>T	ENSP00000495058.1:n.-256G>T
ENST00000645331.1:n.693G>T
ENST00000645620.1:c.-222+24G>T	ENSP00000493657.1:n.-222+24G>T
ENST00000646777.1:n.503G>T
ENST00000647016.1:n.807G>T
ENST00000647152.1:c.-256G>T	ENSP00000495893.1:n.-256G>T
ENST00000647209.1:c.*343G>T	ENSP00000495558.1:n.*343G>T
ENST00000647346.1:n.1494G>T
ENST00000299427.10:c.474G>T	ENSP00000299427.6:p.Gln158His
ENST00000428886.6:n.496G>T
ENST00000436873.6:c.450+24G>T	ENSP00000398136.2:n.450+24G>T
ENST00000524788.1:n.27G>T
ENST00000528571.5:c.*214G>T	ENSP00000434647.1:n.*214G>T
ENST00000533371.5:c.-256G>T	ENSP00000437066.1:n.-256G>T
ENST00000534644.5:n.459G>T
ENST00000611494.4:c.474G>T	ENSP00000484546.1:p.Gln158His
NM_000391.3:c.474G>T	NP_000382.3:p.Gln158His
NM_000391.4:c.474G>T MANE Select	NP_000382.3:p.Gln158His