Canonical Allele Identifier: CA379474432

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637670C>T (hg19) ; chr11:g.6616439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616439C>T , CM000673.2:g.6616439C>T	GRCh38
NC_000011.9:g.6637670C>T , CM000673.1:g.6637670C>T	GRCh37
NC_000011.8:g.6594246C>T	NCBI36
NG_008653.1:g.8023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.837G>A	ENSP00000507321.1:p.Leu279=
ENST00000299427.12:c.951G>A MANE Select	ENSP00000299427.6:p.Leu317=
ENST00000436873.7:c.313-365G>A
ENST00000530040.2:n.544G>A
ENST00000533371.6:c.222G>A	ENSP00000437066.1:p.Leu74=
ENST00000642892.1:c.222G>A	ENSP00000494165.1:p.Leu74=
ENST00000643342.1:c.41G>A
ENST00000643439.1:c.*691G>A	ENSP00000495849.1:n.*691G>A
ENST00000643479.1:n.1137G>A
ENST00000643516.1:c.460G>A
ENST00000644218.1:c.886+222G>A	ENSP00000493574.1:n.886+222G>A
ENST00000644683.1:c.*404G>A	ENSP00000494085.1:n.*404G>A
ENST00000644810.1:c.672G>A	ENSP00000495895.1:p.Leu224=
ENST00000644831.1:n.1127G>A
ENST00000644933.1:c.222G>A	ENSP00000496133.1:p.Leu74=
ENST00000645285.1:c.157+222G>A	ENSP00000495058.1:n.157+222G>A
ENST00000645331.1:n.1474G>A
ENST00000645620.1:c.222G>A	ENSP00000493657.1:p.Leu74=
ENST00000646691.1:n.44G>A
ENST00000646777.1:n.1284G>A
ENST00000647016.1:n.1431G>A
ENST00000647152.1:c.222G>A	ENSP00000495893.1:p.Leu74=
ENST00000647209.1:c.*820G>A	ENSP00000495558.1:n.*820G>A
ENST00000647346.1:n.1971G>A
ENST00000299427.10:c.951G>A	ENSP00000299427.6:p.Leu317=
ENST00000436873.6:c.515G>A	ENSP00000398136.2:p.Cys172Tyr
ENST00000533371.5:c.222G>A	ENSP00000437066.1:p.Leu74=
ENST00000611494.4:c.951G>A	ENSP00000484546.1:p.Leu317=
NM_000391.3:c.951G>A	NP_000382.3:p.Leu317=
NM_000391.4:c.951G>A MANE Select	NP_000382.3:p.Leu317=