Canonical Allele Identifier: CA472922868

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638377T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617146T>G , CM000673.2:g.6617146T>G	GRCh38
NC_000011.9:g.6638377T>G , CM000673.1:g.6638377T>G	GRCh37
NC_000011.8:g.6594953T>G	NCBI36
NG_008653.1:g.7316A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.402A>C	ENSP00000507321.1:p.Gly134=
ENST00000299427.12:c.516A>C MANE Select	ENSP00000299427.6:p.Gly172=
ENST00000428886.7:n.751A>C
ENST00000436873.7:c.312+155A>C
ENST00000524788.2:n.1675A>C
ENST00000524903.2:n.1791A>C
ENST00000528807.2:n.172A>C
ENST00000530040.2:n.479+213A>C
ENST00000533371.6:c.-214A>C	ENSP00000437066.1:n.-214A>C
ENST00000534644.6:n.464A>C
ENST00000642892.1:c.-214A>C	ENSP00000494165.1:n.-214A>C
ENST00000643439.1:c.*256A>C	ENSP00000495849.1:n.*256A>C
ENST00000643479.1:n.545A>C
ENST00000643516.1:c.395+155A>C
ENST00000644151.1:n.1955A>C
ENST00000644218.1:c.516A>C	ENSP00000493574.1:p.Gly172=
ENST00000644683.1:c.458A>C	ENSP00000494085.1:p.Asp153Ala
ENST00000644810.1:c.237A>C	ENSP00000495895.1:p.Gly79=
ENST00000644831.1:n.692A>C
ENST00000644933.1:c.-214A>C	ENSP00000496133.1:n.-214A>C
ENST00000645020.1:n.1691A>C
ENST00000645285.1:c.-214A>C	ENSP00000495058.1:n.-214A>C
ENST00000645331.1:n.882A>C
ENST00000645620.1:c.-214A>C	ENSP00000493657.1:n.-214A>C
ENST00000646777.1:n.692A>C
ENST00000647016.1:n.996A>C
ENST00000647152.1:c.-214A>C	ENSP00000495893.1:n.-214A>C
ENST00000647209.1:c.*385A>C	ENSP00000495558.1:n.*385A>C
ENST00000647346.1:n.1536A>C
ENST00000299427.10:c.516A>C	ENSP00000299427.6:p.Gly172=
ENST00000428886.6:n.685A>C
ENST00000436873.6:c.450+213A>C	ENSP00000398136.2:n.450+213A>C
ENST00000524788.1:n.216A>C
ENST00000528571.5:c.*256A>C	ENSP00000434647.1:n.*256A>C
ENST00000528807.1:n.66A>C
ENST00000533371.5:c.-214A>C	ENSP00000437066.1:n.-214A>C
ENST00000534644.5:n.501A>C
ENST00000611494.4:c.516A>C	ENSP00000484546.1:p.Gly172=
NM_000391.3:c.516A>C	NP_000382.3:p.Gly172=
NM_000391.4:c.516A>C MANE Select	NP_000382.3:p.Gly172=