Canonical Allele Identifier: CA472922236

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636414C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615183C>A , CM000673.2:g.6615183C>A	GRCh38
NC_000011.9:g.6636414C>A , CM000673.1:g.6636414C>A	GRCh37
NC_000011.8:g.6592990C>A	NCBI36
NG_008653.1:g.9279G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1299G>T	ENSP00000507321.1:p.Val433=
ENST00000299427.12:c.1413G>T MANE Select	ENSP00000299427.6:p.Val471=
ENST00000524611.2:n.273G>T
ENST00000524924.2:n.533G>T
ENST00000533371.6:c.684G>T	ENSP00000437066.1:p.Val228=
ENST00000642892.1:c.684G>T	ENSP00000494165.1:p.Val228=
ENST00000643342.1:c.486G>T
ENST00000643439.1:c.*1153G>T	ENSP00000495849.1:n.*1153G>T
ENST00000643479.1:n.1599G>T
ENST00000643516.1:c.922G>T
ENST00000644218.1:c.1224G>T	ENSP00000493574.1:p.Val408=
ENST00000644683.1:c.*866G>T	ENSP00000494085.1:n.*866G>T
ENST00000644810.1:c.1134G>T	ENSP00000495895.1:p.Val378=
ENST00000644831.1:n.1589G>T
ENST00000644933.1:c.*279G>T	ENSP00000496133.1:n.*279G>T
ENST00000645285.1:c.*279G>T	ENSP00000495058.1:n.*279G>T
ENST00000645331.1:n.2618G>T
ENST00000645620.1:c.684G>T	ENSP00000493657.1:p.Val228=
ENST00000646691.1:n.1300G>T
ENST00000646777.1:n.1746G>T
ENST00000647016.1:n.1893G>T
ENST00000647152.1:c.684G>T	ENSP00000495893.1:p.Val228=
ENST00000647209.1:c.*1282G>T	ENSP00000495558.1:n.*1282G>T
ENST00000647346.1:n.2433G>T
ENST00000299427.10:c.1413G>T	ENSP00000299427.6:p.Val471=
ENST00000524611.1:n.291G>T
ENST00000533371.5:c.684G>T	ENSP00000437066.1:p.Val228=
ENST00000611494.4:c.1413G>T	ENSP00000484546.1:p.Val471=
NM_000391.3:c.1413G>T	NP_000382.3:p.Val471=
NM_000391.4:c.1413G>T MANE Select	NP_000382.3:p.Val471=