Canonical Allele Identifier: CA472922830

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2872360
• ClinVar RCV Id: RCV003706026
• MyVariant Identifiers: chr11:g.6638350G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617119G>A , CM000673.2:g.6617119G>A	GRCh38
NC_000011.9:g.6638350G>A , CM000673.1:g.6638350G>A	GRCh37
NC_000011.8:g.6594926G>A	NCBI36
NG_008653.1:g.7343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.429C>T	ENSP00000507321.1:p.Ser143=
ENST00000299427.12:c.543C>T MANE Select	ENSP00000299427.6:p.Ser181=
ENST00000428886.7:n.778C>T
ENST00000436873.7:c.312+182C>T
ENST00000524788.2:n.1702C>T
ENST00000524903.2:n.1818C>T
ENST00000528807.2:n.199C>T
ENST00000530040.2:n.479+240C>T
ENST00000533371.6:c.-187C>T	ENSP00000437066.1:n.-187C>T
ENST00000534644.6:n.491C>T
ENST00000642892.1:c.-187C>T	ENSP00000494165.1:n.-187C>T
ENST00000643439.1:c.*283C>T	ENSP00000495849.1:n.*283C>T
ENST00000643479.1:n.572C>T
ENST00000643516.1:c.395+182C>T
ENST00000644151.1:n.1982C>T
ENST00000644218.1:c.543C>T	ENSP00000493574.1:p.Ser181=
ENST00000644683.1:c.485C>T	ENSP00000494085.1:p.Pro162Leu
ENST00000644810.1:c.264C>T	ENSP00000495895.1:p.Ser88=
ENST00000644831.1:n.719C>T
ENST00000644933.1:c.-187C>T	ENSP00000496133.1:n.-187C>T
ENST00000645020.1:n.1718C>T
ENST00000645285.1:c.-187C>T	ENSP00000495058.1:n.-187C>T
ENST00000645331.1:n.909C>T
ENST00000645620.1:c.-187C>T	ENSP00000493657.1:n.-187C>T
ENST00000646777.1:n.719C>T
ENST00000647016.1:n.1023C>T
ENST00000647152.1:c.-187C>T	ENSP00000495893.1:n.-187C>T
ENST00000647209.1:c.*412C>T	ENSP00000495558.1:n.*412C>T
ENST00000647346.1:n.1563C>T
ENST00000299427.10:c.543C>T	ENSP00000299427.6:p.Ser181=
ENST00000428886.6:n.712C>T
ENST00000436873.6:c.450+240C>T	ENSP00000398136.2:n.450+240C>T
ENST00000524788.1:n.243C>T
ENST00000528571.5:c.*283C>T	ENSP00000434647.1:n.*283C>T
ENST00000528807.1:n.93C>T
ENST00000533371.5:c.-187C>T	ENSP00000437066.1:n.-187C>T
ENST00000534644.5:n.528C>T
ENST00000611494.4:c.543C>T	ENSP00000484546.1:p.Ser181=
NM_000391.3:c.543C>T	NP_000382.3:p.Ser181=
NM_000391.4:c.543C>T MANE Select	NP_000382.3:p.Ser181=