Canonical Allele Identifier: CA379475776

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638570T>G (hg19) ; chr11:g.6617339T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617339T>G , CM000673.2:g.6617339T>G	GRCh38
NC_000011.9:g.6638570T>G , CM000673.1:g.6638570T>G	GRCh37
NC_000011.8:g.6595146T>G	NCBI36
NG_008653.1:g.7123A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.356A>C	ENSP00000507321.1:p.Tyr119Ser
ENST00000299427.12:c.470A>C MANE Select	ENSP00000299427.6:p.Tyr157Ser
ENST00000428886.7:n.558A>C
ENST00000436873.7:c.274A>C
ENST00000524788.2:n.1482A>C
ENST00000524903.2:n.1598A>C
ENST00000528571.6:c.*210A>C	ENSP00000434647.1:n.*210A>C
ENST00000528807.2:n.126A>C
ENST00000530040.2:n.479+20A>C
ENST00000533371.6:c.-260A>C	ENSP00000437066.1:n.-260A>C
ENST00000534644.6:n.456+15A>C
ENST00000642892.1:c.-222+15A>C	ENSP00000494165.1:n.-222+15A>C
ENST00000643439.1:c.*210A>C	ENSP00000495849.1:n.*210A>C
ENST00000643479.1:n.499A>C
ENST00000643516.1:c.357A>C
ENST00000644151.1:n.1762A>C
ENST00000644218.1:c.470A>C	ENSP00000493574.1:p.Tyr157Ser
ENST00000644683.1:c.450+20A>C	ENSP00000494085.1:n.450+20A>C
ENST00000644810.1:c.230-186A>C	ENSP00000495895.1:n.230-186A>C
ENST00000644831.1:n.499A>C
ENST00000644933.1:c.-260A>C	ENSP00000496133.1:n.-260A>C
ENST00000645020.1:n.1498A>C
ENST00000645285.1:c.-260A>C	ENSP00000495058.1:n.-260A>C
ENST00000645331.1:n.689A>C
ENST00000645620.1:c.-222+20A>C	ENSP00000493657.1:n.-222+20A>C
ENST00000646777.1:n.499A>C
ENST00000647016.1:n.803A>C
ENST00000647152.1:c.-260A>C	ENSP00000495893.1:n.-260A>C
ENST00000647209.1:c.*339A>C	ENSP00000495558.1:n.*339A>C
ENST00000647346.1:n.1490A>C
ENST00000299427.10:c.470A>C	ENSP00000299427.6:p.Tyr157Ser
ENST00000428886.6:n.492A>C
ENST00000436873.6:c.450+20A>C	ENSP00000398136.2:n.450+20A>C
ENST00000524788.1:n.23A>C
ENST00000528571.5:c.*210A>C	ENSP00000434647.1:n.*210A>C
ENST00000533371.5:c.-260A>C	ENSP00000437066.1:n.-260A>C
ENST00000534644.5:n.455A>C
ENST00000611494.4:c.470A>C	ENSP00000484546.1:p.Tyr157Ser
NM_000391.3:c.470A>C	NP_000382.3:p.Tyr157Ser
NM_000391.4:c.470A>C MANE Select	NP_000382.3:p.Tyr157Ser