Canonical Allele Identifier: CA379474803

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637895G>C (hg19) ; chr11:g.6616664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616664G>C , CM000673.2:g.6616664G>C	GRCh38
NC_000011.9:g.6637895G>C , CM000673.1:g.6637895G>C	GRCh37
NC_000011.8:g.6594471G>C	NCBI36
NG_008653.1:g.7798C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.769C>G	ENSP00000507321.1:p.Pro257Ala
ENST00000299427.12:c.883C>G MANE Select	ENSP00000299427.6:p.Pro295Ala
ENST00000436873.7:c.313-590C>G
ENST00000524788.2:n.2042C>G
ENST00000524903.2:n.2158C>G
ENST00000528807.2:n.539C>G
ENST00000530040.2:n.480-161C>G
ENST00000533371.6:c.154C>G	ENSP00000437066.1:p.Pro52Ala
ENST00000642892.1:c.154C>G	ENSP00000494165.1:p.Pro52Ala
ENST00000643439.1:c.*623C>G	ENSP00000495849.1:n.*623C>G
ENST00000643479.1:n.912C>G
ENST00000643516.1:c.396-161C>G
ENST00000644151.1:n.2322C>G
ENST00000644218.1:c.883C>G	ENSP00000493574.1:p.Pro295Ala
ENST00000644683.1:c.*336C>G	ENSP00000494085.1:n.*336C>G
ENST00000644810.1:c.604C>G	ENSP00000495895.1:p.Pro202Ala
ENST00000644831.1:n.1059C>G
ENST00000644933.1:c.154C>G	ENSP00000496133.1:p.Pro52Ala
ENST00000645020.1:n.2173C>G
ENST00000645285.1:c.154C>G	ENSP00000495058.1:p.Pro52Ala
ENST00000645331.1:n.1249C>G
ENST00000645620.1:c.154C>G	ENSP00000493657.1:p.Pro52Ala
ENST00000646777.1:n.1059C>G
ENST00000647016.1:n.1363C>G
ENST00000647152.1:c.154C>G	ENSP00000495893.1:p.Pro52Ala
ENST00000647209.1:c.*752C>G	ENSP00000495558.1:n.*752C>G
ENST00000647346.1:n.1903C>G
ENST00000299427.10:c.883C>G	ENSP00000299427.6:p.Pro295Ala
ENST00000436873.6:c.451-161C>G	ENSP00000398136.2:n.451-161C>G
ENST00000528807.1:n.433C>G
ENST00000533371.5:c.154C>G	ENSP00000437066.1:p.Pro52Ala
ENST00000611494.4:c.883C>G	ENSP00000484546.1:p.Pro295Ala
NM_000391.3:c.883C>G	NP_000382.3:p.Pro295Ala
NM_000391.4:c.883C>G MANE Select	NP_000382.3:p.Pro295Ala