Canonical Allele Identifier: CA472922311

Gene: TPP1

Linked Data

• dbSNP Id: rs1242960498
• gnomAD v2: 11-6636501-G-A
• MyVariant Identifiers: chr11:g.6636501G>A (hg19) ; chr11:g.6615270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615270G>A , CM000673.2:g.6615270G>A	GRCh38
NC_000011.9:g.6636501G>A , CM000673.1:g.6636501G>A	GRCh37
NC_000011.8:g.6593077G>A	NCBI36
NG_008653.1:g.9192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1212C>T	ENSP00000507321.1:p.Phe404=
ENST00000299427.12:c.1326C>T MANE Select	ENSP00000299427.6:p.Phe442=
ENST00000524611.2:n.186C>T
ENST00000524924.2:n.446C>T
ENST00000533371.6:c.597C>T	ENSP00000437066.1:p.Phe199=
ENST00000642892.1:c.597C>T	ENSP00000494165.1:p.Phe199=
ENST00000643342.1:c.399C>T
ENST00000643439.1:c.*1066C>T	ENSP00000495849.1:n.*1066C>T
ENST00000643479.1:n.1512C>T
ENST00000643516.1:c.835C>T
ENST00000644218.1:c.1137C>T	ENSP00000493574.1:p.Phe379=
ENST00000644683.1:c.*779C>T	ENSP00000494085.1:n.*779C>T
ENST00000644810.1:c.1047C>T	ENSP00000495895.1:p.Phe349=
ENST00000644831.1:n.1502C>T
ENST00000644933.1:c.*192C>T	ENSP00000496133.1:n.*192C>T
ENST00000645285.1:c.*192C>T	ENSP00000495058.1:n.*192C>T
ENST00000645331.1:n.2531C>T
ENST00000645620.1:c.597C>T	ENSP00000493657.1:p.Phe199=
ENST00000646691.1:n.1213C>T
ENST00000646777.1:n.1659C>T
ENST00000647016.1:n.1806C>T
ENST00000647152.1:c.597C>T	ENSP00000495893.1:p.Phe199=
ENST00000647209.1:c.*1195C>T	ENSP00000495558.1:n.*1195C>T
ENST00000647346.1:n.2346C>T
ENST00000299427.10:c.1326C>T	ENSP00000299427.6:p.Phe442=
ENST00000524611.1:n.204C>T
ENST00000524924.1:n.281C>T
ENST00000532191.1:n.379C>T
ENST00000533371.5:c.597C>T	ENSP00000437066.1:p.Phe199=
ENST00000611494.4:c.1326C>T	ENSP00000484546.1:p.Phe442=
NM_000391.3:c.1326C>T	NP_000382.3:p.Phe442=
NM_000391.4:c.1326C>T MANE Select	NP_000382.3:p.Phe442=