Canonical Allele Identifier: CA379476519

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638962G>C (hg19) ; chr11:g.6617731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617731G>C , CM000673.2:g.6617731G>C	GRCh38
NC_000011.9:g.6638962G>C , CM000673.1:g.6638962G>C	GRCh37
NC_000011.8:g.6595538G>C	NCBI36
NG_008653.1:g.6731C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.161C>G	ENSP00000507321.1:p.Ser54Cys
ENST00000299427.12:c.275C>G MANE Select	ENSP00000299427.6:p.Ser92Cys
ENST00000428886.7:n.363C>G
ENST00000436873.7:c.79C>G
ENST00000524788.2:n.1287C>G
ENST00000524903.2:n.1403C>G
ENST00000528571.6:c.*15C>G	ENSP00000434647.1:n.*15C>G
ENST00000530040.2:n.304C>G
ENST00000533371.6:c.-455C>G	ENSP00000437066.1:n.-455C>G
ENST00000534644.6:n.276C>G
ENST00000642892.1:c.-402C>G	ENSP00000494165.1:n.-402C>G
ENST00000643439.1:c.*15C>G	ENSP00000495849.1:n.*15C>G
ENST00000643479.1:n.304C>G
ENST00000643516.1:c.162C>G
ENST00000644151.1:n.1567C>G
ENST00000644218.1:c.275C>G	ENSP00000493574.1:p.Ser92Cys
ENST00000644683.1:c.275C>G	ENSP00000494085.1:p.Ser92Cys
ENST00000644810.1:c.230-578C>G	ENSP00000495895.1:n.230-578C>G
ENST00000644831.1:n.304C>G
ENST00000644933.1:c.-455C>G	ENSP00000496133.1:n.-455C>G
ENST00000645020.1:n.1303C>G
ENST00000645285.1:c.-455C>G	ENSP00000495058.1:n.-455C>G
ENST00000645331.1:n.297C>G
ENST00000645620.1:c.-397C>G	ENSP00000493657.1:n.-397C>G
ENST00000646777.1:n.304C>G
ENST00000647016.1:n.608C>G
ENST00000647152.1:c.-455C>G	ENSP00000495893.1:n.-455C>G
ENST00000647209.1:c.*144C>G	ENSP00000495558.1:n.*144C>G
ENST00000647346.1:n.1295C>G
ENST00000299427.10:c.275C>G	ENSP00000299427.6:p.Ser92Cys
ENST00000428886.6:n.297C>G
ENST00000436873.6:c.275C>G	ENSP00000398136.2:p.Ser92Cys
ENST00000528571.5:c.*15C>G	ENSP00000434647.1:n.*15C>G
ENST00000530040.1:n.387C>G
ENST00000533371.5:c.-455C>G	ENSP00000437066.1:n.-455C>G
ENST00000534644.5:n.260C>G
ENST00000611494.4:c.275C>G	ENSP00000484546.1:p.Ser92Cys
NM_000391.3:c.275C>G	NP_000382.3:p.Ser92Cys
NM_000391.4:c.275C>G MANE Select	NP_000382.3:p.Ser92Cys