Canonical Allele Identifier: CA379474418

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637667T>G (hg19) ; chr11:g.6616436T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616436T>G , CM000673.2:g.6616436T>G	GRCh38
NC_000011.9:g.6637667T>G , CM000673.1:g.6637667T>G	GRCh37
NC_000011.8:g.6594243T>G	NCBI36
NG_008653.1:g.8026A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.840A>C	ENSP00000507321.1:p.Pro280=
ENST00000299427.12:c.954A>C MANE Select	ENSP00000299427.6:p.Pro318=
ENST00000436873.7:c.313-362A>C
ENST00000530040.2:n.547A>C
ENST00000533371.6:c.225A>C	ENSP00000437066.1:p.Pro75=
ENST00000642892.1:c.225A>C	ENSP00000494165.1:p.Pro75=
ENST00000643342.1:c.44A>C
ENST00000643439.1:c.*694A>C	ENSP00000495849.1:n.*694A>C
ENST00000643479.1:n.1140A>C
ENST00000643516.1:c.463A>C
ENST00000644218.1:c.886+225A>C	ENSP00000493574.1:n.886+225A>C
ENST00000644683.1:c.*407A>C	ENSP00000494085.1:n.*407A>C
ENST00000644810.1:c.675A>C	ENSP00000495895.1:p.Pro225=
ENST00000644831.1:n.1130A>C
ENST00000644933.1:c.225A>C	ENSP00000496133.1:p.Pro75=
ENST00000645285.1:c.157+225A>C	ENSP00000495058.1:n.157+225A>C
ENST00000645331.1:n.1477A>C
ENST00000645620.1:c.225A>C	ENSP00000493657.1:p.Pro75=
ENST00000646691.1:n.47A>C
ENST00000646777.1:n.1287A>C
ENST00000647016.1:n.1434A>C
ENST00000647152.1:c.225A>C	ENSP00000495893.1:p.Pro75=
ENST00000647209.1:c.*823A>C	ENSP00000495558.1:n.*823A>C
ENST00000647346.1:n.1974A>C
ENST00000299427.10:c.954A>C	ENSP00000299427.6:p.Pro318=
ENST00000436873.6:c.518A>C	ENSP00000398136.2:p.His173Pro
ENST00000533371.5:c.225A>C	ENSP00000437066.1:p.Pro75=
ENST00000611494.4:c.954A>C	ENSP00000484546.1:p.Pro318=
NM_000391.3:c.954A>C	NP_000382.3:p.Pro318=
NM_000391.4:c.954A>C MANE Select	NP_000382.3:p.Pro318=