Canonical Allele Identifier: CA472922815

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638031G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616800G>A , CM000673.2:g.6616800G>A	GRCh38
NC_000011.9:g.6638031G>A , CM000673.1:g.6638031G>A	GRCh37
NC_000011.8:g.6594607G>A	NCBI36
NG_008653.1:g.7662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.633C>T	ENSP00000507321.1:p.Gly211=
ENST00000299427.12:c.747C>T MANE Select	ENSP00000299427.6:p.Gly249=
ENST00000436873.7:c.312+501C>T
ENST00000524788.2:n.1906C>T
ENST00000524903.2:n.2022C>T
ENST00000528807.2:n.403C>T
ENST00000530040.2:n.480-297C>T
ENST00000533371.6:c.18C>T	ENSP00000437066.1:p.Gly6=
ENST00000642892.1:c.18C>T	ENSP00000494165.1:p.Gly6=
ENST00000643439.1:c.*487C>T	ENSP00000495849.1:n.*487C>T
ENST00000643479.1:n.776C>T
ENST00000643516.1:c.396-297C>T
ENST00000644151.1:n.2186C>T
ENST00000644218.1:c.747C>T	ENSP00000493574.1:p.Gly249=
ENST00000644683.1:c.*200C>T	ENSP00000494085.1:n.*200C>T
ENST00000644810.1:c.468C>T	ENSP00000495895.1:p.Gly156=
ENST00000644831.1:n.923C>T
ENST00000644933.1:c.18C>T	ENSP00000496133.1:p.Gly6=
ENST00000645020.1:n.2037C>T
ENST00000645285.1:c.18C>T	ENSP00000495058.1:p.Gly6=
ENST00000645331.1:n.1113C>T
ENST00000645620.1:c.18C>T	ENSP00000493657.1:p.Gly6=
ENST00000646777.1:n.923C>T
ENST00000647016.1:n.1227C>T
ENST00000647152.1:c.18C>T	ENSP00000495893.1:p.Gly6=
ENST00000647209.1:c.*616C>T	ENSP00000495558.1:n.*616C>T
ENST00000647346.1:n.1767C>T
ENST00000299427.10:c.747C>T	ENSP00000299427.6:p.Gly249=
ENST00000436873.6:c.451-297C>T	ENSP00000398136.2:n.451-297C>T
ENST00000524788.1:n.447C>T
ENST00000528807.1:n.297C>T
ENST00000533371.5:c.18C>T	ENSP00000437066.1:p.Gly6=
ENST00000611494.4:c.747C>T	ENSP00000484546.1:p.Gly249=
NM_000391.3:c.747C>T	NP_000382.3:p.Gly249=
NM_000391.4:c.747C>T MANE Select	NP_000382.3:p.Gly249=