Canonical Allele Identifier: CA472922750

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637995A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616764A>G , CM000673.2:g.6616764A>G	GRCh38
NC_000011.9:g.6637995A>G , CM000673.1:g.6637995A>G	GRCh37
NC_000011.8:g.6594571A>G	NCBI36
NG_008653.1:g.7698T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.669T>C	ENSP00000507321.1:p.Val223=
ENST00000299427.12:c.783T>C MANE Select	ENSP00000299427.6:p.Val261=
ENST00000436873.7:c.312+537T>C
ENST00000524788.2:n.1942T>C
ENST00000524903.2:n.2058T>C
ENST00000528807.2:n.439T>C
ENST00000530040.2:n.480-261T>C
ENST00000533371.6:c.54T>C	ENSP00000437066.1:p.Val18=
ENST00000642892.1:c.54T>C	ENSP00000494165.1:p.Val18=
ENST00000643439.1:c.*523T>C	ENSP00000495849.1:n.*523T>C
ENST00000643479.1:n.812T>C
ENST00000643516.1:c.396-261T>C
ENST00000644151.1:n.2222T>C
ENST00000644218.1:c.783T>C	ENSP00000493574.1:p.Val261=
ENST00000644683.1:c.*236T>C	ENSP00000494085.1:n.*236T>C
ENST00000644810.1:c.504T>C	ENSP00000495895.1:p.Val168=
ENST00000644831.1:n.959T>C
ENST00000644933.1:c.54T>C	ENSP00000496133.1:p.Val18=
ENST00000645020.1:n.2073T>C
ENST00000645285.1:c.54T>C	ENSP00000495058.1:p.Val18=
ENST00000645331.1:n.1149T>C
ENST00000645620.1:c.54T>C	ENSP00000493657.1:p.Val18=
ENST00000646777.1:n.959T>C
ENST00000647016.1:n.1263T>C
ENST00000647152.1:c.54T>C	ENSP00000495893.1:p.Val18=
ENST00000647209.1:c.*652T>C	ENSP00000495558.1:n.*652T>C
ENST00000647346.1:n.1803T>C
ENST00000299427.10:c.783T>C	ENSP00000299427.6:p.Val261=
ENST00000436873.6:c.451-261T>C	ENSP00000398136.2:n.451-261T>C
ENST00000524788.1:n.483T>C
ENST00000528807.1:n.333T>C
ENST00000533371.5:c.54T>C	ENSP00000437066.1:p.Val18=
ENST00000611494.4:c.783T>C	ENSP00000484546.1:p.Val261=
NM_000391.3:c.783T>C	NP_000382.3:p.Val261=
NM_000391.4:c.783T>C MANE Select	NP_000382.3:p.Val261=