Canonical Allele Identifier: CA472922802
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6617098-C-G
MyVariant Identifiers: chr11:g.6638329C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617098C>G , CM000673.2:g.6617098C>G GRCh38
NC_000011.9:g.6638329C>G , CM000673.1:g.6638329C>G GRCh37
NC_000011.8:g.6594905C>G NCBI36
NG_008653.1:g.7364G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.450G>C ENSP00000507321.1:p.Pro150=
ENST00000299427.12:c.564G>C MANE Select ENSP00000299427.6:p.Pro188=
ENST00000428886.7:n.799G>C
ENST00000436873.7:c.312+203G>C
ENST00000524788.2:n.1723G>C
ENST00000524903.2:n.1839G>C
ENST00000528807.2:n.220G>C
ENST00000530040.2:n.479+261G>C
ENST00000533371.6:c.-166G>C ENSP00000437066.1:n.-166G>C
ENST00000534644.6:n.512G>C
ENST00000642892.1:c.-166G>C ENSP00000494165.1:n.-166G>C
ENST00000643439.1:c.*304G>C ENSP00000495849.1:n.*304G>C
ENST00000643479.1:n.593G>C
ENST00000643516.1:c.395+203G>C
ENST00000644151.1:n.2003G>C
ENST00000644218.1:c.564G>C ENSP00000493574.1:p.Pro188=
ENST00000644683.1:c.*17G>C ENSP00000494085.1:n.*17G>C
ENST00000644810.1:c.285G>C ENSP00000495895.1:p.Pro95=
ENST00000644831.1:n.740G>C
ENST00000644933.1:c.-166G>C ENSP00000496133.1:n.-166G>C
ENST00000645020.1:n.1739G>C
ENST00000645285.1:c.-166G>C ENSP00000495058.1:n.-166G>C
ENST00000645331.1:n.930G>C
ENST00000645620.1:c.-166G>C ENSP00000493657.1:n.-166G>C
ENST00000646777.1:n.740G>C
ENST00000647016.1:n.1044G>C
ENST00000647152.1:c.-166G>C ENSP00000495893.1:n.-166G>C
ENST00000647209.1:c.*433G>C ENSP00000495558.1:n.*433G>C
ENST00000647346.1:n.1584G>C
ENST00000299427.10:c.564G>C ENSP00000299427.6:p.Pro188=
ENST00000428886.6:n.733G>C
ENST00000436873.6:c.450+261G>C ENSP00000398136.2:n.450+261G>C
ENST00000524788.1:n.264G>C
ENST00000528571.5:c.*304G>C ENSP00000434647.1:n.*304G>C
ENST00000528807.1:n.114G>C
ENST00000533371.5:c.-166G>C ENSP00000437066.1:n.-166G>C
ENST00000534644.5:n.549G>C
ENST00000611494.4:c.564G>C ENSP00000484546.1:p.Pro188=
NM_000391.3:c.564G>C NP_000382.3:p.Pro188=
NM_000391.4:c.564G>C MANE Select NP_000382.3:p.Pro188=