Canonical Allele Identifier: CA472922956

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638293T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617062T>G , CM000673.2:g.6617062T>G	GRCh38
NC_000011.9:g.6638293T>G , CM000673.1:g.6638293T>G	GRCh37
NC_000011.8:g.6594869T>G	NCBI36
NG_008653.1:g.7400A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.486A>C	ENSP00000507321.1:p.Val162=
ENST00000299427.12:c.600A>C MANE Select	ENSP00000299427.6:p.Val200=
ENST00000428886.7:n.835A>C
ENST00000436873.7:c.312+239A>C
ENST00000524788.2:n.1759A>C
ENST00000524903.2:n.1875A>C
ENST00000528807.2:n.256A>C
ENST00000530040.2:n.479+297A>C
ENST00000533371.6:c.-130A>C	ENSP00000437066.1:n.-130A>C
ENST00000534644.6:n.548A>C
ENST00000642892.1:c.-130A>C	ENSP00000494165.1:n.-130A>C
ENST00000643439.1:c.*340A>C	ENSP00000495849.1:n.*340A>C
ENST00000643479.1:n.629A>C
ENST00000643516.1:c.395+239A>C
ENST00000644151.1:n.2039A>C
ENST00000644218.1:c.600A>C	ENSP00000493574.1:p.Val200=
ENST00000644683.1:c.*53A>C	ENSP00000494085.1:n.*53A>C
ENST00000644810.1:c.321A>C	ENSP00000495895.1:p.Val107=
ENST00000644831.1:n.776A>C
ENST00000644933.1:c.-130A>C	ENSP00000496133.1:n.-130A>C
ENST00000645020.1:n.1775A>C
ENST00000645285.1:c.-130A>C	ENSP00000495058.1:n.-130A>C
ENST00000645331.1:n.966A>C
ENST00000645620.1:c.-130A>C	ENSP00000493657.1:n.-130A>C
ENST00000646777.1:n.776A>C
ENST00000647016.1:n.1080A>C
ENST00000647152.1:c.-130A>C	ENSP00000495893.1:n.-130A>C
ENST00000647209.1:c.*469A>C	ENSP00000495558.1:n.*469A>C
ENST00000647346.1:n.1620A>C
ENST00000299427.10:c.600A>C	ENSP00000299427.6:p.Val200=
ENST00000428886.6:n.769A>C
ENST00000436873.6:c.450+297A>C	ENSP00000398136.2:n.450+297A>C
ENST00000524788.1:n.300A>C
ENST00000528571.5:c.*340A>C	ENSP00000434647.1:n.*340A>C
ENST00000528807.1:n.150A>C
ENST00000533371.5:c.-130A>C	ENSP00000437066.1:n.-130A>C
ENST00000534644.5:n.585A>C
ENST00000611494.4:c.600A>C	ENSP00000484546.1:p.Val200=
NM_000391.3:c.600A>C	NP_000382.3:p.Val200=
NM_000391.4:c.600A>C MANE Select	NP_000382.3:p.Val200=