Canonical Allele Identifier: CA379474441

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637672G>T (hg19) ; chr11:g.6616441G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616441G>T , CM000673.2:g.6616441G>T	GRCh38
NC_000011.9:g.6637672G>T , CM000673.1:g.6637672G>T	GRCh37
NC_000011.8:g.6594248G>T	NCBI36
NG_008653.1:g.8021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.835C>A	ENSP00000507321.1:p.Leu279Met
ENST00000299427.12:c.949C>A MANE Select	ENSP00000299427.6:p.Leu317Met
ENST00000436873.7:c.313-367C>A
ENST00000530040.2:n.542C>A
ENST00000533371.6:c.220C>A	ENSP00000437066.1:p.Leu74Met
ENST00000642892.1:c.220C>A	ENSP00000494165.1:p.Leu74Met
ENST00000643342.1:c.39C>A
ENST00000643439.1:c.*689C>A	ENSP00000495849.1:n.*689C>A
ENST00000643479.1:n.1135C>A
ENST00000643516.1:c.458C>A
ENST00000644218.1:c.886+220C>A	ENSP00000493574.1:n.886+220C>A
ENST00000644683.1:c.*402C>A	ENSP00000494085.1:n.*402C>A
ENST00000644810.1:c.670C>A	ENSP00000495895.1:p.Leu224Met
ENST00000644831.1:n.1125C>A
ENST00000644933.1:c.220C>A	ENSP00000496133.1:p.Leu74Met
ENST00000645285.1:c.157+220C>A	ENSP00000495058.1:n.157+220C>A
ENST00000645331.1:n.1472C>A
ENST00000645620.1:c.220C>A	ENSP00000493657.1:p.Leu74Met
ENST00000646691.1:n.42C>A
ENST00000646777.1:n.1282C>A
ENST00000647016.1:n.1429C>A
ENST00000647152.1:c.220C>A	ENSP00000495893.1:p.Leu74Met
ENST00000647209.1:c.*818C>A	ENSP00000495558.1:n.*818C>A
ENST00000647346.1:n.1969C>A
ENST00000299427.10:c.949C>A	ENSP00000299427.6:p.Leu317Met
ENST00000436873.6:c.513C>A	ENSP00000398136.2:p.Pro171=
ENST00000533371.5:c.220C>A	ENSP00000437066.1:p.Leu74Met
ENST00000611494.4:c.949C>A	ENSP00000484546.1:p.Leu317Met
NM_000391.3:c.949C>A	NP_000382.3:p.Leu317Met
NM_000391.4:c.949C>A MANE Select	NP_000382.3:p.Leu317Met