Canonical Allele Identifier: CA472922818

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638034A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616803A>C , CM000673.2:g.6616803A>C	GRCh38
NC_000011.9:g.6638034A>C , CM000673.1:g.6638034A>C	GRCh37
NC_000011.8:g.6594610A>C	NCBI36
NG_008653.1:g.7659T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.630T>G	ENSP00000507321.1:p.Gly210=
ENST00000299427.12:c.744T>G MANE Select	ENSP00000299427.6:p.Gly248=
ENST00000436873.7:c.312+498T>G
ENST00000524788.2:n.1903T>G
ENST00000524903.2:n.2019T>G
ENST00000528807.2:n.400T>G
ENST00000530040.2:n.480-300T>G
ENST00000533371.6:c.15T>G	ENSP00000437066.1:p.Gly5=
ENST00000642892.1:c.15T>G	ENSP00000494165.1:p.Gly5=
ENST00000643439.1:c.*484T>G	ENSP00000495849.1:n.*484T>G
ENST00000643479.1:n.773T>G
ENST00000643516.1:c.396-300T>G
ENST00000644151.1:n.2183T>G
ENST00000644218.1:c.744T>G	ENSP00000493574.1:p.Gly248=
ENST00000644683.1:c.*197T>G	ENSP00000494085.1:n.*197T>G
ENST00000644810.1:c.465T>G	ENSP00000495895.1:p.Gly155=
ENST00000644831.1:n.920T>G
ENST00000644933.1:c.15T>G	ENSP00000496133.1:p.Gly5=
ENST00000645020.1:n.2034T>G
ENST00000645285.1:c.15T>G	ENSP00000495058.1:p.Gly5=
ENST00000645331.1:n.1110T>G
ENST00000645620.1:c.15T>G	ENSP00000493657.1:p.Gly5=
ENST00000646777.1:n.920T>G
ENST00000647016.1:n.1224T>G
ENST00000647152.1:c.15T>G	ENSP00000495893.1:p.Gly5=
ENST00000647209.1:c.*613T>G	ENSP00000495558.1:n.*613T>G
ENST00000647346.1:n.1764T>G
ENST00000299427.10:c.744T>G	ENSP00000299427.6:p.Gly248=
ENST00000436873.6:c.451-300T>G	ENSP00000398136.2:n.451-300T>G
ENST00000524788.1:n.444T>G
ENST00000528807.1:n.294T>G
ENST00000533371.5:c.15T>G	ENSP00000437066.1:p.Gly5=
ENST00000611494.4:c.744T>G	ENSP00000484546.1:p.Gly248=
NM_000391.3:c.744T>G	NP_000382.3:p.Gly248=
NM_000391.4:c.744T>G MANE Select	NP_000382.3:p.Gly248=