Canonical Allele Identifier: CA472922254

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636444C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615213C>A , CM000673.2:g.6615213C>A	GRCh38
NC_000011.9:g.6636444C>A , CM000673.1:g.6636444C>A	GRCh37
NC_000011.8:g.6593020C>A	NCBI36
NG_008653.1:g.9249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1269G>T	ENSP00000507321.1:p.Val423=
ENST00000299427.12:c.1383G>T MANE Select	ENSP00000299427.6:p.Val461=
ENST00000524611.2:n.243G>T
ENST00000524924.2:n.503G>T
ENST00000533371.6:c.654G>T	ENSP00000437066.1:p.Val218=
ENST00000642892.1:c.654G>T	ENSP00000494165.1:p.Val218=
ENST00000643342.1:c.456G>T
ENST00000643439.1:c.*1123G>T	ENSP00000495849.1:n.*1123G>T
ENST00000643479.1:n.1569G>T
ENST00000643516.1:c.892G>T
ENST00000644218.1:c.1194G>T	ENSP00000493574.1:p.Val398=
ENST00000644683.1:c.*836G>T	ENSP00000494085.1:n.*836G>T
ENST00000644810.1:c.1104G>T	ENSP00000495895.1:p.Val368=
ENST00000644831.1:n.1559G>T
ENST00000644933.1:c.*249G>T	ENSP00000496133.1:n.*249G>T
ENST00000645285.1:c.*249G>T	ENSP00000495058.1:n.*249G>T
ENST00000645331.1:n.2588G>T
ENST00000645620.1:c.654G>T	ENSP00000493657.1:p.Val218=
ENST00000646691.1:n.1270G>T
ENST00000646777.1:n.1716G>T
ENST00000647016.1:n.1863G>T
ENST00000647152.1:c.654G>T	ENSP00000495893.1:p.Val218=
ENST00000647209.1:c.*1252G>T	ENSP00000495558.1:n.*1252G>T
ENST00000647346.1:n.2403G>T
ENST00000299427.10:c.1383G>T	ENSP00000299427.6:p.Val461=
ENST00000524611.1:n.261G>T
ENST00000533371.5:c.654G>T	ENSP00000437066.1:p.Val218=
ENST00000611494.4:c.1383G>T	ENSP00000484546.1:p.Val461=
NM_000391.3:c.1383G>T	NP_000382.3:p.Val461=
NM_000391.4:c.1383G>T MANE Select	NP_000382.3:p.Val461=