Canonical Allele Identifier: CA266186

Gene: TPP1

Linked Data

• ClinVar Variation Id: 68743
• ClinVar RCV Id: RCV000059625
• dbSNP Id: rs121908210
• MyVariant Identifiers: chr11:g.6635839G>A (hg19) ; chr11:g.6614608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614608G>A , CM000673.2:g.6614608G>A	GRCh38
NC_000011.9:g.6635839G>A , CM000673.1:g.6635839G>A	GRCh37
NC_000011.8:g.6592415G>A	NCBI36
NG_008653.1:g.9854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1516C>T	ENSP00000507321.1:p.Pro506Ser
ENST00000299427.12:c.1630C>T MANE Select	ENSP00000299427.6:p.Pro544Ser
ENST00000524611.2:n.669C>T
ENST00000524924.2:n.750C>T
ENST00000533371.6:c.901C>T	ENSP00000437066.1:p.Pro301Ser
ENST00000642892.1:c.901C>T	ENSP00000494165.1:p.Pro301Ser
ENST00000643342.1:c.703C>T
ENST00000643439.1:c.*1370C>T	ENSP00000495849.1:n.*1370C>T
ENST00000643479.1:n.1816C>T
ENST00000643516.1:c.1139C>T
ENST00000644218.1:c.1441C>T	ENSP00000493574.1:p.Pro481Ser
ENST00000644683.1:c.*1083C>T	ENSP00000494085.1:n.*1083C>T
ENST00000644810.1:c.1351C>T	ENSP00000495895.1:p.Pro451Ser
ENST00000644831.1:n.1806C>T
ENST00000644933.1:c.*496C>T	ENSP00000496133.1:n.*496C>T
ENST00000645285.1:c.*496C>T	ENSP00000495058.1:n.*496C>T
ENST00000645331.1:n.2835C>T
ENST00000645620.1:c.901C>T	ENSP00000493657.1:p.Pro301Ser
ENST00000646691.1:n.1517C>T
ENST00000646777.1:n.1963C>T
ENST00000647016.1:n.2110C>T
ENST00000647152.1:c.901C>T	ENSP00000495893.1:p.Pro301Ser
ENST00000647209.1:c.*1499C>T	ENSP00000495558.1:n.*1499C>T
ENST00000647346.1:n.2650C>T
ENST00000299427.10:c.1630C>T	ENSP00000299427.6:p.Pro544Ser
ENST00000533371.5:c.901C>T	ENSP00000437066.1:p.Pro301Ser
ENST00000611494.4:c.1630C>T	ENSP00000484546.1:p.Pro544Ser
NM_000391.3:c.1630C>T	NP_000382.3:p.Pro544Ser
NM_000391.4:c.1630C>T MANE Select	NP_000382.3:p.Pro544Ser