Canonical Allele Identifier: CA379475758

Gene: TPP1

Linked Data

• dbSNP Id: rs1212352552
• gnomAD v2: 11-6638566-C-G
• gnomAD v4: 11-6617335-C-G
• MyVariant Identifiers: chr11:g.6638566C>G (hg19) ; chr11:g.6617335C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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