Canonical Allele Identifier: CA472922827

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638040G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616809G>A , CM000673.2:g.6616809G>A	GRCh38
NC_000011.9:g.6638040G>A , CM000673.1:g.6638040G>A	GRCh37
NC_000011.8:g.6594616G>A	NCBI36
NG_008653.1:g.7653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.624C>T	ENSP00000507321.1:p.Leu208=
ENST00000299427.12:c.738C>T MANE Select	ENSP00000299427.6:p.Leu246=
ENST00000436873.7:c.312+492C>T
ENST00000524788.2:n.1897C>T
ENST00000524903.2:n.2013C>T
ENST00000528807.2:n.394C>T
ENST00000530040.2:n.480-306C>T
ENST00000533371.6:c.9C>T	ENSP00000437066.1:p.Leu3=
ENST00000642892.1:c.9C>T	ENSP00000494165.1:p.Leu3=
ENST00000643439.1:c.*478C>T	ENSP00000495849.1:n.*478C>T
ENST00000643479.1:n.767C>T
ENST00000643516.1:c.396-306C>T
ENST00000644151.1:n.2177C>T
ENST00000644218.1:c.738C>T	ENSP00000493574.1:p.Leu246=
ENST00000644683.1:c.*191C>T	ENSP00000494085.1:n.*191C>T
ENST00000644810.1:c.459C>T	ENSP00000495895.1:p.Leu153=
ENST00000644831.1:n.914C>T
ENST00000644933.1:c.9C>T	ENSP00000496133.1:p.Leu3=
ENST00000645020.1:n.2028C>T
ENST00000645285.1:c.9C>T	ENSP00000495058.1:p.Leu3=
ENST00000645331.1:n.1104C>T
ENST00000645620.1:c.9C>T	ENSP00000493657.1:p.Leu3=
ENST00000646777.1:n.914C>T
ENST00000647016.1:n.1218C>T
ENST00000647152.1:c.9C>T	ENSP00000495893.1:p.Leu3=
ENST00000647209.1:c.*607C>T	ENSP00000495558.1:n.*607C>T
ENST00000647346.1:n.1758C>T
ENST00000299427.10:c.738C>T	ENSP00000299427.6:p.Leu246=
ENST00000436873.6:c.451-306C>T	ENSP00000398136.2:n.451-306C>T
ENST00000524788.1:n.438C>T
ENST00000528807.1:n.288C>T
ENST00000533371.5:c.9C>T	ENSP00000437066.1:p.Leu3=
ENST00000611494.4:c.738C>T	ENSP00000484546.1:p.Leu246=
NM_000391.3:c.738C>T	NP_000382.3:p.Leu246=
NM_000391.4:c.738C>T MANE Select	NP_000382.3:p.Leu246=