Canonical Allele Identifier: CA472922984

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1571217
• ClinVar RCV Id: RCV002217540
• dbSNP Id: rs2134596176
• gnomAD v4: 11-6617679-C-T
• MyVariant Identifiers: chr11:g.6638910C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617679C>T , CM000673.2:g.6617679C>T	GRCh38
NC_000011.9:g.6638910C>T , CM000673.1:g.6638910C>T	GRCh37
NC_000011.8:g.6595486C>T	NCBI36
NG_008653.1:g.6783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.213G>A	ENSP00000507321.1:p.Gln71=
ENST00000299427.12:c.327G>A MANE Select	ENSP00000299427.6:p.Gln109=
ENST00000428886.7:n.415G>A
ENST00000436873.7:c.131G>A
ENST00000524788.2:n.1339G>A
ENST00000524903.2:n.1455G>A
ENST00000528571.6:c.*67G>A	ENSP00000434647.1:n.*67G>A
ENST00000530040.2:n.356G>A
ENST00000533371.6:c.-403G>A	ENSP00000437066.1:n.-403G>A
ENST00000534644.6:n.328G>A
ENST00000642892.1:c.-350G>A	ENSP00000494165.1:n.-350G>A
ENST00000643439.1:c.*67G>A	ENSP00000495849.1:n.*67G>A
ENST00000643479.1:n.356G>A
ENST00000643516.1:c.214G>A
ENST00000644151.1:n.1619G>A
ENST00000644218.1:c.327G>A	ENSP00000493574.1:p.Gln109=
ENST00000644683.1:c.327G>A	ENSP00000494085.1:p.Gln109=
ENST00000644810.1:c.230-526G>A	ENSP00000495895.1:n.230-526G>A
ENST00000644831.1:n.356G>A
ENST00000644933.1:c.-403G>A	ENSP00000496133.1:n.-403G>A
ENST00000645020.1:n.1355G>A
ENST00000645285.1:c.-403G>A	ENSP00000495058.1:n.-403G>A
ENST00000645331.1:n.349G>A
ENST00000645620.1:c.-345G>A	ENSP00000493657.1:n.-345G>A
ENST00000646777.1:n.356G>A
ENST00000647016.1:n.660G>A
ENST00000647152.1:c.-403G>A	ENSP00000495893.1:n.-403G>A
ENST00000647209.1:c.*196G>A	ENSP00000495558.1:n.*196G>A
ENST00000647346.1:n.1347G>A
ENST00000299427.10:c.327G>A	ENSP00000299427.6:p.Gln109=
ENST00000428886.6:n.349G>A
ENST00000436873.6:c.327G>A	ENSP00000398136.2:p.Gln109=
ENST00000528571.5:c.*67G>A	ENSP00000434647.1:n.*67G>A
ENST00000530040.1:n.439G>A
ENST00000533371.5:c.-403G>A	ENSP00000437066.1:n.-403G>A
ENST00000534644.5:n.312G>A
ENST00000611494.4:c.327G>A	ENSP00000484546.1:p.Gln109=
NM_000391.3:c.327G>A	NP_000382.3:p.Gln109=
NM_000391.4:c.327G>A MANE Select	NP_000382.3:p.Gln109=