Canonical Allele Identifier: CA379475151

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638032C>G (hg19) ; chr11:g.6616801C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616801C>G , CM000673.2:g.6616801C>G	GRCh38
NC_000011.9:g.6638032C>G , CM000673.1:g.6638032C>G	GRCh37
NC_000011.8:g.6594608C>G	NCBI36
NG_008653.1:g.7661G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.632G>C	ENSP00000507321.1:p.Gly211Ala
ENST00000299427.12:c.746G>C MANE Select	ENSP00000299427.6:p.Gly249Ala
ENST00000436873.7:c.312+500G>C
ENST00000524788.2:n.1905G>C
ENST00000524903.2:n.2021G>C
ENST00000528807.2:n.402G>C
ENST00000530040.2:n.480-298G>C
ENST00000533371.6:c.17G>C	ENSP00000437066.1:p.Gly6Ala
ENST00000642892.1:c.17G>C	ENSP00000494165.1:p.Gly6Ala
ENST00000643439.1:c.*486G>C	ENSP00000495849.1:n.*486G>C
ENST00000643479.1:n.775G>C
ENST00000643516.1:c.396-298G>C
ENST00000644151.1:n.2185G>C
ENST00000644218.1:c.746G>C	ENSP00000493574.1:p.Gly249Ala
ENST00000644683.1:c.*199G>C	ENSP00000494085.1:n.*199G>C
ENST00000644810.1:c.467G>C	ENSP00000495895.1:p.Gly156Ala
ENST00000644831.1:n.922G>C
ENST00000644933.1:c.17G>C	ENSP00000496133.1:p.Gly6Ala
ENST00000645020.1:n.2036G>C
ENST00000645285.1:c.17G>C	ENSP00000495058.1:p.Gly6Ala
ENST00000645331.1:n.1112G>C
ENST00000645620.1:c.17G>C	ENSP00000493657.1:p.Gly6Ala
ENST00000646777.1:n.922G>C
ENST00000647016.1:n.1226G>C
ENST00000647152.1:c.17G>C	ENSP00000495893.1:p.Gly6Ala
ENST00000647209.1:c.*615G>C	ENSP00000495558.1:n.*615G>C
ENST00000647346.1:n.1766G>C
ENST00000299427.10:c.746G>C	ENSP00000299427.6:p.Gly249Ala
ENST00000436873.6:c.451-298G>C	ENSP00000398136.2:n.451-298G>C
ENST00000524788.1:n.446G>C
ENST00000528807.1:n.296G>C
ENST00000533371.5:c.17G>C	ENSP00000437066.1:p.Gly6Ala
ENST00000611494.4:c.746G>C	ENSP00000484546.1:p.Gly249Ala
NM_000391.3:c.746G>C	NP_000382.3:p.Gly249Ala
NM_000391.4:c.746G>C MANE Select	NP_000382.3:p.Gly249Ala