Canonical Allele Identifier: CA472772028

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636763G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615532G>A , CM000673.2:g.6615532G>A	GRCh38
NC_000011.9:g.6636763G>A , CM000673.1:g.6636763G>A	GRCh37
NC_000011.8:g.6593339G>A	NCBI36
NG_008653.1:g.8930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1062C>T	ENSP00000507321.1:p.Ser354=
ENST00000299427.12:c.1176C>T MANE Select	ENSP00000299427.6:p.Ser392=
ENST00000436873.7:c.413C>T
ENST00000524924.2:n.296C>T
ENST00000533371.6:c.447C>T	ENSP00000437066.1:p.Ser149=
ENST00000642892.1:c.447C>T	ENSP00000494165.1:p.Ser149=
ENST00000643342.1:c.249C>T
ENST00000643439.1:c.*916C>T	ENSP00000495849.1:n.*916C>T
ENST00000643479.1:n.1362C>T
ENST00000643516.1:c.685C>T
ENST00000644218.1:c.987C>T	ENSP00000493574.1:p.Ser329=
ENST00000644683.1:c.*629C>T	ENSP00000494085.1:n.*629C>T
ENST00000644810.1:c.897C>T	ENSP00000495895.1:p.Ser299=
ENST00000644831.1:n.1352C>T
ENST00000644933.1:c.*42C>T	ENSP00000496133.1:n.*42C>T
ENST00000645285.1:c.*42C>T	ENSP00000495058.1:n.*42C>T
ENST00000645331.1:n.2381C>T
ENST00000645620.1:c.447C>T	ENSP00000493657.1:p.Ser149=
ENST00000646691.1:n.951C>T
ENST00000646777.1:n.1509C>T
ENST00000647016.1:n.1656C>T
ENST00000647152.1:c.447C>T	ENSP00000495893.1:p.Ser149=
ENST00000647209.1:c.*1045C>T	ENSP00000495558.1:n.*1045C>T
ENST00000647346.1:n.2196C>T
ENST00000299427.10:c.1176C>T	ENSP00000299427.6:p.Ser392=
ENST00000524924.1:n.131C>T
ENST00000532191.1:n.229C>T
ENST00000533371.5:c.447C>T	ENSP00000437066.1:p.Ser149=
ENST00000611494.4:c.1176C>T	ENSP00000484546.1:p.Ser392=
NM_000391.3:c.1176C>T	NP_000382.3:p.Ser392=
NM_000391.4:c.1176C>T MANE Select	NP_000382.3:p.Ser392=