Canonical Allele Identifier: CA379471934

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635785T>G (hg19) ; chr11:g.6614554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614554T>G , CM000673.2:g.6614554T>G	GRCh38
NC_000011.9:g.6635785T>G , CM000673.1:g.6635785T>G	GRCh37
NC_000011.8:g.6592361T>G	NCBI36
NG_008653.1:g.9908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1570A>C	ENSP00000507321.1:p.Asn524His
ENST00000299427.12:c.1684A>C MANE Select	ENSP00000299427.6:p.Asn562His
ENST00000524611.2:n.723A>C
ENST00000533371.6:c.955A>C	ENSP00000437066.1:p.Asn319His
ENST00000642892.1:c.955A>C	ENSP00000494165.1:p.Asn319His
ENST00000643342.1:c.757A>C
ENST00000643439.1:c.*1424A>C	ENSP00000495849.1:n.*1424A>C
ENST00000643479.1:n.1870A>C
ENST00000643516.1:c.1193A>C
ENST00000644218.1:c.1495A>C	ENSP00000493574.1:p.Asn499His
ENST00000644683.1:c.*1137A>C	ENSP00000494085.1:n.*1137A>C
ENST00000644810.1:c.1405A>C	ENSP00000495895.1:p.Asn469His
ENST00000644831.1:n.1860A>C
ENST00000644933.1:c.*550A>C	ENSP00000496133.1:n.*550A>C
ENST00000645285.1:c.*550A>C	ENSP00000495058.1:n.*550A>C
ENST00000645331.1:n.2889A>C
ENST00000645620.1:c.955A>C	ENSP00000493657.1:p.Asn319His
ENST00000646691.1:n.1571A>C
ENST00000646777.1:n.2017A>C
ENST00000647016.1:n.2164A>C
ENST00000647152.1:c.955A>C	ENSP00000495893.1:p.Asn319His
ENST00000647209.1:c.*1553A>C	ENSP00000495558.1:n.*1553A>C
ENST00000647346.1:n.2704A>C
ENST00000299427.10:c.1684A>C	ENSP00000299427.6:p.Asn562His
ENST00000533371.5:c.955A>C	ENSP00000437066.1:p.Asn319His
ENST00000611494.4:c.*12A>C	ENSP00000484546.1:n.*12A>C
NM_000391.3:c.1684A>C	NP_000382.3:p.Asn562His
NM_000391.4:c.1684A>C MANE Select	NP_000382.3:p.Asn562His