Canonical Allele Identifier: CA472922892

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638269T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617038T>G , CM000673.2:g.6617038T>G	GRCh38
NC_000011.9:g.6638269T>G , CM000673.1:g.6638269T>G	GRCh37
NC_000011.8:g.6594845T>G	NCBI36
NG_008653.1:g.7424A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.510A>C	ENSP00000507321.1:p.Arg170=
ENST00000299427.12:c.624A>C MANE Select	ENSP00000299427.6:p.Arg208=
ENST00000436873.7:c.312+263A>C
ENST00000524788.2:n.1783A>C
ENST00000524903.2:n.1899A>C
ENST00000528807.2:n.280A>C
ENST00000530040.2:n.479+321A>C
ENST00000533371.6:c.-106A>C	ENSP00000437066.1:n.-106A>C
ENST00000534644.6:n.572A>C
ENST00000642892.1:c.-106A>C	ENSP00000494165.1:n.-106A>C
ENST00000643439.1:c.*364A>C	ENSP00000495849.1:n.*364A>C
ENST00000643479.1:n.653A>C
ENST00000643516.1:c.395+263A>C
ENST00000644151.1:n.2063A>C
ENST00000644218.1:c.624A>C	ENSP00000493574.1:p.Arg208=
ENST00000644683.1:c.*77A>C	ENSP00000494085.1:n.*77A>C
ENST00000644810.1:c.345A>C	ENSP00000495895.1:p.Arg115=
ENST00000644831.1:n.800A>C
ENST00000644933.1:c.-106A>C	ENSP00000496133.1:n.-106A>C
ENST00000645020.1:n.1799A>C
ENST00000645285.1:c.-106A>C	ENSP00000495058.1:n.-106A>C
ENST00000645331.1:n.990A>C
ENST00000645620.1:c.-106A>C	ENSP00000493657.1:n.-106A>C
ENST00000646777.1:n.800A>C
ENST00000647016.1:n.1104A>C
ENST00000647152.1:c.-106A>C	ENSP00000495893.1:n.-106A>C
ENST00000647209.1:c.*493A>C	ENSP00000495558.1:n.*493A>C
ENST00000647346.1:n.1644A>C
ENST00000299427.10:c.624A>C	ENSP00000299427.6:p.Arg208=
ENST00000428886.6:n.793A>C
ENST00000436873.6:c.450+321A>C	ENSP00000398136.2:n.450+321A>C
ENST00000524788.1:n.324A>C
ENST00000528571.5:c.*364A>C	ENSP00000434647.1:n.*364A>C
ENST00000528807.1:n.174A>C
ENST00000533371.5:c.-106A>C	ENSP00000437066.1:n.-106A>C
ENST00000534644.5:n.609A>C
ENST00000611494.4:c.624A>C	ENSP00000484546.1:p.Arg208=
NM_000391.3:c.624A>C	NP_000382.3:p.Arg208=
NM_000391.4:c.624A>C MANE Select	NP_000382.3:p.Arg208=