Canonical Allele Identifier: CA472771505

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636688T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615457T>G , CM000673.2:g.6615457T>G	GRCh38
NC_000011.9:g.6636688T>G , CM000673.1:g.6636688T>G	GRCh37
NC_000011.8:g.6593264T>G	NCBI36
NG_008653.1:g.9005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1137A>C	ENSP00000507321.1:p.Pro379=
ENST00000299427.12:c.1251A>C MANE Select	ENSP00000299427.6:p.Pro417=
ENST00000436873.7:c.488A>C
ENST00000524924.2:n.371A>C
ENST00000533371.6:c.522A>C	ENSP00000437066.1:p.Pro174=
ENST00000642892.1:c.522A>C	ENSP00000494165.1:p.Pro174=
ENST00000643342.1:c.324A>C
ENST00000643439.1:c.*991A>C	ENSP00000495849.1:n.*991A>C
ENST00000643479.1:n.1437A>C
ENST00000643516.1:c.760A>C
ENST00000644218.1:c.1062A>C	ENSP00000493574.1:p.Pro354=
ENST00000644683.1:c.*704A>C	ENSP00000494085.1:n.*704A>C
ENST00000644810.1:c.972A>C	ENSP00000495895.1:p.Pro324=
ENST00000644831.1:n.1427A>C
ENST00000644933.1:c.*117A>C	ENSP00000496133.1:n.*117A>C
ENST00000645285.1:c.*117A>C	ENSP00000495058.1:n.*117A>C
ENST00000645331.1:n.2456A>C
ENST00000645620.1:c.522A>C	ENSP00000493657.1:p.Pro174=
ENST00000646691.1:n.1026A>C
ENST00000646777.1:n.1584A>C
ENST00000647016.1:n.1731A>C
ENST00000647152.1:c.522A>C	ENSP00000495893.1:p.Pro174=
ENST00000647209.1:c.*1120A>C	ENSP00000495558.1:n.*1120A>C
ENST00000647346.1:n.2271A>C
ENST00000299427.10:c.1251A>C	ENSP00000299427.6:p.Pro417=
ENST00000524611.1:n.17A>C
ENST00000524924.1:n.206A>C
ENST00000532191.1:n.304A>C
ENST00000533371.5:c.522A>C	ENSP00000437066.1:p.Pro174=
ENST00000611494.4:c.1251A>C	ENSP00000484546.1:p.Pro417=
NM_000391.3:c.1251A>C	NP_000382.3:p.Pro417=
NM_000391.4:c.1251A>C MANE Select	NP_000382.3:p.Pro417=