Canonical Allele Identifier: CA379475025

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637964C>G (hg19) ; chr11:g.6616733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616733C>G , CM000673.2:g.6616733C>G	GRCh38
NC_000011.9:g.6637964C>G , CM000673.1:g.6637964C>G	GRCh37
NC_000011.8:g.6594540C>G	NCBI36
NG_008653.1:g.7729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.700G>C	ENSP00000507321.1:p.Glu234Gln
ENST00000299427.12:c.814G>C MANE Select	ENSP00000299427.6:p.Glu272Gln
ENST00000436873.7:c.312+568G>C
ENST00000524788.2:n.1973G>C
ENST00000524903.2:n.2089G>C
ENST00000528807.2:n.470G>C
ENST00000530040.2:n.480-230G>C
ENST00000533371.6:c.85G>C	ENSP00000437066.1:p.Glu29Gln
ENST00000642892.1:c.85G>C	ENSP00000494165.1:p.Glu29Gln
ENST00000643439.1:c.*554G>C	ENSP00000495849.1:n.*554G>C
ENST00000643479.1:n.843G>C
ENST00000643516.1:c.396-230G>C
ENST00000644151.1:n.2253G>C
ENST00000644218.1:c.814G>C	ENSP00000493574.1:p.Glu272Gln
ENST00000644683.1:c.*267G>C	ENSP00000494085.1:n.*267G>C
ENST00000644810.1:c.535G>C	ENSP00000495895.1:p.Glu179Gln
ENST00000644831.1:n.990G>C
ENST00000644933.1:c.85G>C	ENSP00000496133.1:p.Glu29Gln
ENST00000645020.1:n.2104G>C
ENST00000645285.1:c.85G>C	ENSP00000495058.1:p.Glu29Gln
ENST00000645331.1:n.1180G>C
ENST00000645620.1:c.85G>C	ENSP00000493657.1:p.Glu29Gln
ENST00000646777.1:n.990G>C
ENST00000647016.1:n.1294G>C
ENST00000647152.1:c.85G>C	ENSP00000495893.1:p.Glu29Gln
ENST00000647209.1:c.*683G>C	ENSP00000495558.1:n.*683G>C
ENST00000647346.1:n.1834G>C
ENST00000299427.10:c.814G>C	ENSP00000299427.6:p.Glu272Gln
ENST00000436873.6:c.451-230G>C	ENSP00000398136.2:n.451-230G>C
ENST00000524788.1:n.514G>C
ENST00000528807.1:n.364G>C
ENST00000533371.5:c.85G>C	ENSP00000437066.1:p.Glu29Gln
ENST00000611494.4:c.814G>C	ENSP00000484546.1:p.Glu272Gln
NM_000391.3:c.814G>C	NP_000382.3:p.Glu272Gln
NM_000391.4:c.814G>C MANE Select	NP_000382.3:p.Glu272Gln