Canonical Allele Identifier: CA472922883

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638263G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617032G>A , CM000673.2:g.6617032G>A	GRCh38
NC_000011.9:g.6638263G>A , CM000673.1:g.6638263G>A	GRCh37
NC_000011.8:g.6594839G>A	NCBI36
NG_008653.1:g.7430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.516C>T	ENSP00000507321.1:p.Asn172=
ENST00000299427.12:c.630C>T MANE Select	ENSP00000299427.6:p.Asn210=
ENST00000436873.7:c.312+269C>T
ENST00000524788.2:n.1789C>T
ENST00000524903.2:n.1905C>T
ENST00000528807.2:n.286C>T
ENST00000530040.2:n.479+327C>T
ENST00000533371.6:c.-100C>T	ENSP00000437066.1:n.-100C>T
ENST00000534644.6:n.578C>T
ENST00000642892.1:c.-100C>T	ENSP00000494165.1:n.-100C>T
ENST00000643439.1:c.*370C>T	ENSP00000495849.1:n.*370C>T
ENST00000643479.1:n.659C>T
ENST00000643516.1:c.395+269C>T
ENST00000644151.1:n.2069C>T
ENST00000644218.1:c.630C>T	ENSP00000493574.1:p.Asn210=
ENST00000644683.1:c.*83C>T	ENSP00000494085.1:n.*83C>T
ENST00000644810.1:c.351C>T	ENSP00000495895.1:p.Asn117=
ENST00000644831.1:n.806C>T
ENST00000644933.1:c.-100C>T	ENSP00000496133.1:n.-100C>T
ENST00000645020.1:n.1805C>T
ENST00000645285.1:c.-100C>T	ENSP00000495058.1:n.-100C>T
ENST00000645331.1:n.996C>T
ENST00000645620.1:c.-100C>T	ENSP00000493657.1:n.-100C>T
ENST00000646777.1:n.806C>T
ENST00000647016.1:n.1110C>T
ENST00000647152.1:c.-100C>T	ENSP00000495893.1:n.-100C>T
ENST00000647209.1:c.*499C>T	ENSP00000495558.1:n.*499C>T
ENST00000647346.1:n.1650C>T
ENST00000299427.10:c.630C>T	ENSP00000299427.6:p.Asn210=
ENST00000428886.6:n.799C>T
ENST00000436873.6:c.450+327C>T	ENSP00000398136.2:n.450+327C>T
ENST00000524788.1:n.330C>T
ENST00000528571.5:c.*370C>T	ENSP00000434647.1:n.*370C>T
ENST00000528807.1:n.180C>T
ENST00000533371.5:c.-100C>T	ENSP00000437066.1:n.-100C>T
ENST00000534644.5:n.615C>T
ENST00000611494.4:c.630C>T	ENSP00000484546.1:p.Asn210=
NM_000391.3:c.630C>T	NP_000382.3:p.Asn210=
NM_000391.4:c.630C>T MANE Select	NP_000382.3:p.Asn210=