Canonical Allele Identifier: CA379471948

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614563-T-A
• MyVariant Identifiers: chr11:g.6635794T>A (hg19) ; chr11:g.6614563T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614563T>A , CM000673.2:g.6614563T>A	GRCh38
NC_000011.9:g.6635794T>A , CM000673.1:g.6635794T>A	GRCh37
NC_000011.8:g.6592370T>A	NCBI36
NG_008653.1:g.9899A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1561A>T	ENSP00000507321.1:p.Thr521Ser
ENST00000299427.12:c.1675A>T MANE Select	ENSP00000299427.6:p.Thr559Ser
ENST00000524611.2:n.714A>T
ENST00000533371.6:c.946A>T	ENSP00000437066.1:p.Thr316Ser
ENST00000642892.1:c.946A>T	ENSP00000494165.1:p.Thr316Ser
ENST00000643342.1:c.748A>T
ENST00000643439.1:c.*1415A>T	ENSP00000495849.1:n.*1415A>T
ENST00000643479.1:n.1861A>T
ENST00000643516.1:c.1184A>T
ENST00000644218.1:c.1486A>T	ENSP00000493574.1:p.Thr496Ser
ENST00000644683.1:c.*1128A>T	ENSP00000494085.1:n.*1128A>T
ENST00000644810.1:c.1396A>T	ENSP00000495895.1:p.Thr466Ser
ENST00000644831.1:n.1851A>T
ENST00000644933.1:c.*541A>T	ENSP00000496133.1:n.*541A>T
ENST00000645285.1:c.*541A>T	ENSP00000495058.1:n.*541A>T
ENST00000645331.1:n.2880A>T
ENST00000645620.1:c.946A>T	ENSP00000493657.1:p.Thr316Ser
ENST00000646691.1:n.1562A>T
ENST00000646777.1:n.2008A>T
ENST00000647016.1:n.2155A>T
ENST00000647152.1:c.946A>T	ENSP00000495893.1:p.Thr316Ser
ENST00000647209.1:c.*1544A>T	ENSP00000495558.1:n.*1544A>T
ENST00000647346.1:n.2695A>T
ENST00000299427.10:c.1675A>T	ENSP00000299427.6:p.Thr559Ser
ENST00000533371.5:c.946A>T	ENSP00000437066.1:p.Thr316Ser
ENST00000611494.4:c.*3A>T	ENSP00000484546.1:n.*3A>T
NM_000391.3:c.1675A>T	NP_000382.3:p.Thr559Ser
NM_000391.4:c.1675A>T MANE Select	NP_000382.3:p.Thr559Ser