Canonical Allele Identifier: CA379472639

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636464G>C (hg19) ; chr11:g.6615233G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615233G>C , CM000673.2:g.6615233G>C	GRCh38
NC_000011.9:g.6636464G>C , CM000673.1:g.6636464G>C	GRCh37
NC_000011.8:g.6593040G>C	NCBI36
NG_008653.1:g.9229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1249C>G	ENSP00000507321.1:p.Leu417Val
ENST00000299427.12:c.1363C>G MANE Select	ENSP00000299427.6:p.Leu455Val
ENST00000524611.2:n.223C>G
ENST00000524924.2:n.483C>G
ENST00000533371.6:c.634C>G	ENSP00000437066.1:p.Leu212Val
ENST00000642892.1:c.634C>G	ENSP00000494165.1:p.Leu212Val
ENST00000643342.1:c.436C>G
ENST00000643439.1:c.*1103C>G	ENSP00000495849.1:n.*1103C>G
ENST00000643479.1:n.1549C>G
ENST00000643516.1:c.872C>G
ENST00000644218.1:c.1174C>G	ENSP00000493574.1:p.Leu392Val
ENST00000644683.1:c.*816C>G	ENSP00000494085.1:n.*816C>G
ENST00000644810.1:c.1084C>G	ENSP00000495895.1:p.Leu362Val
ENST00000644831.1:n.1539C>G
ENST00000644933.1:c.*229C>G	ENSP00000496133.1:n.*229C>G
ENST00000645285.1:c.*229C>G	ENSP00000495058.1:n.*229C>G
ENST00000645331.1:n.2568C>G
ENST00000645620.1:c.634C>G	ENSP00000493657.1:p.Leu212Val
ENST00000646691.1:n.1250C>G
ENST00000646777.1:n.1696C>G
ENST00000647016.1:n.1843C>G
ENST00000647152.1:c.634C>G	ENSP00000495893.1:p.Leu212Val
ENST00000647209.1:c.*1232C>G	ENSP00000495558.1:n.*1232C>G
ENST00000647346.1:n.2383C>G
ENST00000299427.10:c.1363C>G	ENSP00000299427.6:p.Leu455Val
ENST00000524611.1:n.241C>G
ENST00000532191.1:n.416C>G
ENST00000533371.5:c.634C>G	ENSP00000437066.1:p.Leu212Val
ENST00000611494.4:c.1363C>G	ENSP00000484546.1:p.Leu455Val
NM_000391.3:c.1363C>G	NP_000382.3:p.Leu455Val
NM_000391.4:c.1363C>G MANE Select	NP_000382.3:p.Leu455Val