Canonical Allele Identifier: CA472772075

Gene: TPP1

Linked Data

• dbSNP Id: rs1379645801
• gnomAD v3: 11-6615538-G-A
• gnomAD v4: 11-6615538-G-A
• MyVariant Identifiers: chr11:g.6636769G>A (hg19) ; chr11:g.6615538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615538G>A , CM000673.2:g.6615538G>A	GRCh38
NC_000011.9:g.6636769G>A , CM000673.1:g.6636769G>A	GRCh37
NC_000011.8:g.6593345G>A	NCBI36
NG_008653.1:g.8924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1056C>T	ENSP00000507321.1:p.Gly352=
ENST00000299427.12:c.1170C>T MANE Select	ENSP00000299427.6:p.Gly390=
ENST00000436873.7:c.407C>T
ENST00000524924.2:n.290C>T
ENST00000533371.6:c.441C>T	ENSP00000437066.1:p.Gly147=
ENST00000642892.1:c.441C>T	ENSP00000494165.1:p.Gly147=
ENST00000643342.1:c.243C>T
ENST00000643439.1:c.*910C>T	ENSP00000495849.1:n.*910C>T
ENST00000643479.1:n.1356C>T
ENST00000643516.1:c.679C>T
ENST00000644218.1:c.981C>T	ENSP00000493574.1:p.Gly327=
ENST00000644683.1:c.*623C>T	ENSP00000494085.1:n.*623C>T
ENST00000644810.1:c.891C>T	ENSP00000495895.1:p.Gly297=
ENST00000644831.1:n.1346C>T
ENST00000644933.1:c.*36C>T	ENSP00000496133.1:n.*36C>T
ENST00000645285.1:c.*36C>T	ENSP00000495058.1:n.*36C>T
ENST00000645331.1:n.2375C>T
ENST00000645620.1:c.441C>T	ENSP00000493657.1:p.Gly147=
ENST00000646691.1:n.945C>T
ENST00000646777.1:n.1503C>T
ENST00000647016.1:n.1650C>T
ENST00000647152.1:c.441C>T	ENSP00000495893.1:p.Gly147=
ENST00000647209.1:c.*1039C>T	ENSP00000495558.1:n.*1039C>T
ENST00000647346.1:n.2190C>T
ENST00000299427.10:c.1170C>T	ENSP00000299427.6:p.Gly390=
ENST00000524924.1:n.125C>T
ENST00000532191.1:n.223C>T
ENST00000533371.5:c.441C>T	ENSP00000437066.1:p.Gly147=
ENST00000611494.4:c.1170C>T	ENSP00000484546.1:p.Gly390=
NM_000391.3:c.1170C>T	NP_000382.3:p.Gly390=
NM_000391.4:c.1170C>T MANE Select	NP_000382.3:p.Gly390=