Canonical Allele Identifier: CA379472053

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635838G>T (hg19) ; chr11:g.6614607G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614607G>T , CM000673.2:g.6614607G>T	GRCh38
NC_000011.9:g.6635838G>T , CM000673.1:g.6635838G>T	GRCh37
NC_000011.8:g.6592414G>T	NCBI36
NG_008653.1:g.9855C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1517C>A	ENSP00000507321.1:p.Pro506His
ENST00000299427.12:c.1631C>A MANE Select	ENSP00000299427.6:p.Pro544His
ENST00000524611.2:n.670C>A
ENST00000524924.2:n.751C>A
ENST00000533371.6:c.902C>A	ENSP00000437066.1:p.Pro301His
ENST00000642892.1:c.902C>A	ENSP00000494165.1:p.Pro301His
ENST00000643342.1:c.704C>A
ENST00000643439.1:c.*1371C>A	ENSP00000495849.1:n.*1371C>A
ENST00000643479.1:n.1817C>A
ENST00000643516.1:c.1140C>A
ENST00000644218.1:c.1442C>A	ENSP00000493574.1:p.Pro481His
ENST00000644683.1:c.*1084C>A	ENSP00000494085.1:n.*1084C>A
ENST00000644810.1:c.1352C>A	ENSP00000495895.1:p.Pro451His
ENST00000644831.1:n.1807C>A
ENST00000644933.1:c.*497C>A	ENSP00000496133.1:n.*497C>A
ENST00000645285.1:c.*497C>A	ENSP00000495058.1:n.*497C>A
ENST00000645331.1:n.2836C>A
ENST00000645620.1:c.902C>A	ENSP00000493657.1:p.Pro301His
ENST00000646691.1:n.1518C>A
ENST00000646777.1:n.1964C>A
ENST00000647016.1:n.2111C>A
ENST00000647152.1:c.902C>A	ENSP00000495893.1:p.Pro301His
ENST00000647209.1:c.*1500C>A	ENSP00000495558.1:n.*1500C>A
ENST00000647346.1:n.2651C>A
ENST00000299427.10:c.1631C>A	ENSP00000299427.6:p.Pro544His
ENST00000533371.5:c.902C>A	ENSP00000437066.1:p.Pro301His
ENST00000611494.4:c.1631C>A	ENSP00000484546.1:p.Pro544His
NM_000391.3:c.1631C>A	NP_000382.3:p.Pro544His
NM_000391.4:c.1631C>A MANE Select	NP_000382.3:p.Pro544His