Canonical Allele Identifier: CA379472663

Gene: TPP1

Linked Data

• ClinVar Variation Id: 646861
• ClinVar RCV Id: RCV001369652 ; RCV001825581
• dbSNP Id: rs1589947644
• MyVariant Identifiers: chr11:g.6636476C>A (hg19) ; chr11:g.6615245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615245C>A , CM000673.2:g.6615245C>A	GRCh38
NC_000011.9:g.6636476C>A , CM000673.1:g.6636476C>A	GRCh37
NC_000011.8:g.6593052C>A	NCBI36
NG_008653.1:g.9217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1237G>T	ENSP00000507321.1:p.Asp413Tyr
ENST00000299427.12:c.1351G>T MANE Select	ENSP00000299427.6:p.Asp451Tyr
ENST00000524611.2:n.211G>T
ENST00000524924.2:n.471G>T
ENST00000533371.6:c.622G>T	ENSP00000437066.1:p.Asp208Tyr
ENST00000642892.1:c.622G>T	ENSP00000494165.1:p.Asp208Tyr
ENST00000643342.1:c.424G>T
ENST00000643439.1:c.*1091G>T	ENSP00000495849.1:n.*1091G>T
ENST00000643479.1:n.1537G>T
ENST00000643516.1:c.860G>T
ENST00000644218.1:c.1162G>T	ENSP00000493574.1:p.Asp388Tyr
ENST00000644683.1:c.*804G>T	ENSP00000494085.1:n.*804G>T
ENST00000644810.1:c.1072G>T	ENSP00000495895.1:p.Asp358Tyr
ENST00000644831.1:n.1527G>T
ENST00000644933.1:c.*217G>T	ENSP00000496133.1:n.*217G>T
ENST00000645285.1:c.*217G>T	ENSP00000495058.1:n.*217G>T
ENST00000645331.1:n.2556G>T
ENST00000645620.1:c.622G>T	ENSP00000493657.1:p.Asp208Tyr
ENST00000646691.1:n.1238G>T
ENST00000646777.1:n.1684G>T
ENST00000647016.1:n.1831G>T
ENST00000647152.1:c.622G>T	ENSP00000495893.1:p.Asp208Tyr
ENST00000647209.1:c.*1220G>T	ENSP00000495558.1:n.*1220G>T
ENST00000647346.1:n.2371G>T
ENST00000299427.10:c.1351G>T	ENSP00000299427.6:p.Asp451Tyr
ENST00000524611.1:n.229G>T
ENST00000532191.1:n.404G>T
ENST00000533371.5:c.622G>T	ENSP00000437066.1:p.Asp208Tyr
ENST00000611494.4:c.1351G>T	ENSP00000484546.1:p.Asp451Tyr
NM_000391.3:c.1351G>T	NP_000382.3:p.Asp451Tyr
NM_000391.4:c.1351G>T MANE Select	NP_000382.3:p.Asp451Tyr