Canonical Allele Identifier: CA472922877

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638254T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617023T>G , CM000673.2:g.6617023T>G	GRCh38
NC_000011.9:g.6638254T>G , CM000673.1:g.6638254T>G	GRCh37
NC_000011.8:g.6594830T>G	NCBI36
NG_008653.1:g.7439A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.525A>C	ENSP00000507321.1:p.Ser175=
ENST00000299427.12:c.639A>C MANE Select	ENSP00000299427.6:p.Ser213=
ENST00000436873.7:c.312+278A>C
ENST00000524788.2:n.1798A>C
ENST00000524903.2:n.1914A>C
ENST00000528807.2:n.295A>C
ENST00000530040.2:n.479+336A>C
ENST00000533371.6:c.-91A>C	ENSP00000437066.1:n.-91A>C
ENST00000534644.6:n.587A>C
ENST00000642892.1:c.-91A>C	ENSP00000494165.1:n.-91A>C
ENST00000643439.1:c.*379A>C	ENSP00000495849.1:n.*379A>C
ENST00000643479.1:n.668A>C
ENST00000643516.1:c.395+278A>C
ENST00000644151.1:n.2078A>C
ENST00000644218.1:c.639A>C	ENSP00000493574.1:p.Ser213=
ENST00000644683.1:c.*92A>C	ENSP00000494085.1:n.*92A>C
ENST00000644810.1:c.360A>C	ENSP00000495895.1:p.Ser120=
ENST00000644831.1:n.815A>C
ENST00000644933.1:c.-91A>C	ENSP00000496133.1:n.-91A>C
ENST00000645020.1:n.1814A>C
ENST00000645285.1:c.-91A>C	ENSP00000495058.1:n.-91A>C
ENST00000645331.1:n.1005A>C
ENST00000645620.1:c.-91A>C	ENSP00000493657.1:n.-91A>C
ENST00000646777.1:n.815A>C
ENST00000647016.1:n.1119A>C
ENST00000647152.1:c.-91A>C	ENSP00000495893.1:n.-91A>C
ENST00000647209.1:c.*508A>C	ENSP00000495558.1:n.*508A>C
ENST00000647346.1:n.1659A>C
ENST00000299427.10:c.639A>C	ENSP00000299427.6:p.Ser213=
ENST00000428886.6:n.808A>C
ENST00000436873.6:c.450+336A>C	ENSP00000398136.2:n.450+336A>C
ENST00000524788.1:n.339A>C
ENST00000528571.5:c.*379A>C	ENSP00000434647.1:n.*379A>C
ENST00000528807.1:n.189A>C
ENST00000533371.5:c.-91A>C	ENSP00000437066.1:n.-91A>C
ENST00000534644.5:n.624A>C
ENST00000611494.4:c.639A>C	ENSP00000484546.1:p.Ser213=
NM_000391.3:c.639A>C	NP_000382.3:p.Ser213=
NM_000391.4:c.639A>C MANE Select	NP_000382.3:p.Ser213=