Canonical Allele Identifier: CA379474742

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637733G>C (hg19) ; chr11:g.6616502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616502G>C , CM000673.2:g.6616502G>C	GRCh38
NC_000011.9:g.6637733G>C , CM000673.1:g.6637733G>C	GRCh37
NC_000011.8:g.6594309G>C	NCBI36
NG_008653.1:g.7960C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.774C>G	ENSP00000507321.1:p.Gly258=
ENST00000299427.12:c.888C>G MANE Select	ENSP00000299427.6:p.Gly296=
ENST00000436873.7:c.313-428C>G
ENST00000530040.2:n.481C>G
ENST00000533371.6:c.159C>G	ENSP00000437066.1:p.Gly53=
ENST00000642892.1:c.159C>G	ENSP00000494165.1:p.Gly53=
ENST00000643439.1:c.*628C>G	ENSP00000495849.1:n.*628C>G
ENST00000643479.1:n.1074C>G
ENST00000643516.1:c.397C>G
ENST00000644218.1:c.886+159C>G	ENSP00000493574.1:n.886+159C>G
ENST00000644683.1:c.*341C>G	ENSP00000494085.1:n.*341C>G
ENST00000644810.1:c.609C>G	ENSP00000495895.1:p.Gly203=
ENST00000644831.1:n.1064C>G
ENST00000644933.1:c.159C>G	ENSP00000496133.1:p.Gly53=
ENST00000645285.1:c.157+159C>G	ENSP00000495058.1:n.157+159C>G
ENST00000645331.1:n.1411C>G
ENST00000645620.1:c.159C>G	ENSP00000493657.1:p.Gly53=
ENST00000646777.1:n.1221C>G
ENST00000647016.1:n.1368C>G
ENST00000647152.1:c.159C>G	ENSP00000495893.1:p.Gly53=
ENST00000647209.1:c.*757C>G	ENSP00000495558.1:n.*757C>G
ENST00000647346.1:n.1908C>G
ENST00000299427.10:c.888C>G	ENSP00000299427.6:p.Gly296=
ENST00000436873.6:c.452C>G	ENSP00000398136.2:p.Ala151Gly
ENST00000533371.5:c.159C>G	ENSP00000437066.1:p.Gly53=
ENST00000611494.4:c.888C>G	ENSP00000484546.1:p.Gly296=
NM_000391.3:c.888C>G	NP_000382.3:p.Gly296=
NM_000391.4:c.888C>G MANE Select	NP_000382.3:p.Gly296=