Canonical Allele Identifier: CA472923049

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1133643
• ClinVar RCV Id: RCV001468276
• dbSNP Id: rs2134596352
• MyVariant Identifiers: chr11:g.6638973C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617742C>A , CM000673.2:g.6617742C>A	GRCh38
NC_000011.9:g.6638973C>A , CM000673.1:g.6638973C>A	GRCh37
NC_000011.8:g.6595549C>A	NCBI36
NG_008653.1:g.6720G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.150G>T	ENSP00000507321.1:p.Leu50=
ENST00000299427.12:c.264G>T MANE Select	ENSP00000299427.6:p.Leu88=
ENST00000428886.7:n.352G>T
ENST00000436873.7:c.68G>T
ENST00000524788.2:n.1276G>T
ENST00000524903.2:n.1392G>T
ENST00000528571.6:c.*4G>T	ENSP00000434647.1:n.*4G>T
ENST00000530040.2:n.293G>T
ENST00000533371.6:c.-466G>T	ENSP00000437066.1:n.-466G>T
ENST00000534644.6:n.265G>T
ENST00000642892.1:c.-413G>T	ENSP00000494165.1:n.-413G>T
ENST00000643439.1:c.*4G>T	ENSP00000495849.1:n.*4G>T
ENST00000643479.1:n.293G>T
ENST00000643516.1:c.151G>T
ENST00000644151.1:n.1556G>T
ENST00000644218.1:c.264G>T	ENSP00000493574.1:p.Leu88=
ENST00000644683.1:c.264G>T	ENSP00000494085.1:p.Leu88=
ENST00000644810.1:c.230-589G>T	ENSP00000495895.1:n.230-589G>T
ENST00000644831.1:n.293G>T
ENST00000644933.1:c.-466G>T	ENSP00000496133.1:n.-466G>T
ENST00000645020.1:n.1292G>T
ENST00000645285.1:c.-466G>T	ENSP00000495058.1:n.-466G>T
ENST00000645331.1:n.286G>T
ENST00000645620.1:c.-408G>T	ENSP00000493657.1:n.-408G>T
ENST00000646777.1:n.293G>T
ENST00000647016.1:n.597G>T
ENST00000647152.1:c.-466G>T	ENSP00000495893.1:n.-466G>T
ENST00000647209.1:c.*133G>T	ENSP00000495558.1:n.*133G>T
ENST00000647346.1:n.1284G>T
ENST00000299427.10:c.264G>T	ENSP00000299427.6:p.Leu88=
ENST00000428886.6:n.286G>T
ENST00000436873.6:c.264G>T	ENSP00000398136.2:p.Leu88=
ENST00000528571.5:c.*4G>T	ENSP00000434647.1:n.*4G>T
ENST00000530040.1:n.376G>T
ENST00000533371.5:c.-466G>T	ENSP00000437066.1:n.-466G>T
ENST00000534644.5:n.249G>T
ENST00000611494.4:c.264G>T	ENSP00000484546.1:p.Leu88=
NM_000391.3:c.264G>T	NP_000382.3:p.Leu88=
NM_000391.4:c.264G>T MANE Select	NP_000382.3:p.Leu88=