Canonical Allele Identifier: CA379475516

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638310C>G (hg19) ; chr11:g.6617079C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617079C>G , CM000673.2:g.6617079C>G	GRCh38
NC_000011.9:g.6638310C>G , CM000673.1:g.6638310C>G	GRCh37
NC_000011.8:g.6594886C>G	NCBI36
NG_008653.1:g.7383G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.469G>C	ENSP00000507321.1:p.Gly157Arg
ENST00000299427.12:c.583G>C MANE Select	ENSP00000299427.6:p.Gly195Arg
ENST00000428886.7:n.818G>C
ENST00000436873.7:c.312+222G>C
ENST00000524788.2:n.1742G>C
ENST00000524903.2:n.1858G>C
ENST00000528807.2:n.239G>C
ENST00000530040.2:n.479+280G>C
ENST00000533371.6:c.-147G>C	ENSP00000437066.1:n.-147G>C
ENST00000534644.6:n.531G>C
ENST00000642892.1:c.-147G>C	ENSP00000494165.1:n.-147G>C
ENST00000643439.1:c.*323G>C	ENSP00000495849.1:n.*323G>C
ENST00000643479.1:n.612G>C
ENST00000643516.1:c.395+222G>C
ENST00000644151.1:n.2022G>C
ENST00000644218.1:c.583G>C	ENSP00000493574.1:p.Gly195Arg
ENST00000644683.1:c.*36G>C	ENSP00000494085.1:n.*36G>C
ENST00000644810.1:c.304G>C	ENSP00000495895.1:p.Gly102Arg
ENST00000644831.1:n.759G>C
ENST00000644933.1:c.-147G>C	ENSP00000496133.1:n.-147G>C
ENST00000645020.1:n.1758G>C
ENST00000645285.1:c.-147G>C	ENSP00000495058.1:n.-147G>C
ENST00000645331.1:n.949G>C
ENST00000645620.1:c.-147G>C	ENSP00000493657.1:n.-147G>C
ENST00000646777.1:n.759G>C
ENST00000647016.1:n.1063G>C
ENST00000647152.1:c.-147G>C	ENSP00000495893.1:n.-147G>C
ENST00000647209.1:c.*452G>C	ENSP00000495558.1:n.*452G>C
ENST00000647346.1:n.1603G>C
ENST00000299427.10:c.583G>C	ENSP00000299427.6:p.Gly195Arg
ENST00000428886.6:n.752G>C
ENST00000436873.6:c.450+280G>C	ENSP00000398136.2:n.450+280G>C
ENST00000524788.1:n.283G>C
ENST00000528571.5:c.*323G>C	ENSP00000434647.1:n.*323G>C
ENST00000528807.1:n.133G>C
ENST00000533371.5:c.-147G>C	ENSP00000437066.1:n.-147G>C
ENST00000534644.5:n.568G>C
ENST00000611494.4:c.583G>C	ENSP00000484546.1:p.Gly195Arg
NM_000391.3:c.583G>C	NP_000382.3:p.Gly195Arg
NM_000391.4:c.583G>C MANE Select	NP_000382.3:p.Gly195Arg