Canonical Allele Identifier: CA379472099

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635859C>G (hg19) ; chr11:g.6614628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614628C>G , CM000673.2:g.6614628C>G	GRCh38
NC_000011.9:g.6635859C>G , CM000673.1:g.6635859C>G	GRCh37
NC_000011.8:g.6592435C>G	NCBI36
NG_008653.1:g.9834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1496G>C	ENSP00000507321.1:p.Cys499Ser
ENST00000299427.12:c.1610G>C MANE Select	ENSP00000299427.6:p.Cys537Ser
ENST00000524611.2:n.649G>C
ENST00000524924.2:n.730G>C
ENST00000533371.6:c.881G>C	ENSP00000437066.1:p.Cys294Ser
ENST00000642892.1:c.881G>C	ENSP00000494165.1:p.Cys294Ser
ENST00000643342.1:c.683G>C
ENST00000643439.1:c.*1350G>C	ENSP00000495849.1:n.*1350G>C
ENST00000643479.1:n.1796G>C
ENST00000643516.1:c.1119G>C
ENST00000644218.1:c.1421G>C	ENSP00000493574.1:p.Cys474Ser
ENST00000644683.1:c.*1063G>C	ENSP00000494085.1:n.*1063G>C
ENST00000644810.1:c.1331G>C	ENSP00000495895.1:p.Cys444Ser
ENST00000644831.1:n.1786G>C
ENST00000644933.1:c.*476G>C	ENSP00000496133.1:n.*476G>C
ENST00000645285.1:c.*476G>C	ENSP00000495058.1:n.*476G>C
ENST00000645331.1:n.2815G>C
ENST00000645620.1:c.881G>C	ENSP00000493657.1:p.Cys294Ser
ENST00000646691.1:n.1497G>C
ENST00000646777.1:n.1943G>C
ENST00000647016.1:n.2090G>C
ENST00000647152.1:c.881G>C	ENSP00000495893.1:p.Cys294Ser
ENST00000647209.1:c.*1479G>C	ENSP00000495558.1:n.*1479G>C
ENST00000647346.1:n.2630G>C
ENST00000299427.10:c.1610G>C	ENSP00000299427.6:p.Cys537Ser
ENST00000533371.5:c.881G>C	ENSP00000437066.1:p.Cys294Ser
ENST00000611494.4:c.1610G>C	ENSP00000484546.1:p.Cys537Ser
NM_000391.3:c.1610G>C	NP_000382.3:p.Cys537Ser
NM_000391.4:c.1610G>C MANE Select	NP_000382.3:p.Cys537Ser