Canonical Allele Identifier: CA379475751

Gene: TPP1

Linked Data

• ClinVar Variation Id: 845200
• ClinVar RCV Id: RCV001048224
• dbSNP Id: rs1855602609
• MyVariant Identifiers: chr11:g.6638565G>A (hg19) ; chr11:g.6617334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617334G>A , CM000673.2:g.6617334G>A	GRCh38
NC_000011.9:g.6638565G>A , CM000673.1:g.6638565G>A	GRCh37
NC_000011.8:g.6595141G>A	NCBI36
NG_008653.1:g.7128C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.361C>T	ENSP00000507321.1:p.Leu121Phe
ENST00000299427.12:c.475C>T MANE Select	ENSP00000299427.6:p.Leu159Phe
ENST00000428886.7:n.563C>T
ENST00000436873.7:c.279C>T
ENST00000524788.2:n.1487C>T
ENST00000524903.2:n.1603C>T
ENST00000528571.6:c.*215C>T	ENSP00000434647.1:n.*215C>T
ENST00000528807.2:n.131C>T
ENST00000530040.2:n.479+25C>T
ENST00000533371.6:c.-255C>T	ENSP00000437066.1:n.-255C>T
ENST00000534644.6:n.456+20C>T
ENST00000642892.1:c.-222+20C>T	ENSP00000494165.1:n.-222+20C>T
ENST00000643439.1:c.*215C>T	ENSP00000495849.1:n.*215C>T
ENST00000643479.1:n.504C>T
ENST00000643516.1:c.362C>T
ENST00000644151.1:n.1767C>T
ENST00000644218.1:c.475C>T	ENSP00000493574.1:p.Leu159Phe
ENST00000644683.1:c.450+25C>T	ENSP00000494085.1:n.450+25C>T
ENST00000644810.1:c.230-181C>T	ENSP00000495895.1:n.230-181C>T
ENST00000644831.1:n.504C>T
ENST00000644933.1:c.-255C>T	ENSP00000496133.1:n.-255C>T
ENST00000645020.1:n.1503C>T
ENST00000645285.1:c.-255C>T	ENSP00000495058.1:n.-255C>T
ENST00000645331.1:n.694C>T
ENST00000645620.1:c.-222+25C>T	ENSP00000493657.1:n.-222+25C>T
ENST00000646777.1:n.504C>T
ENST00000647016.1:n.808C>T
ENST00000647152.1:c.-255C>T	ENSP00000495893.1:n.-255C>T
ENST00000647209.1:c.*344C>T	ENSP00000495558.1:n.*344C>T
ENST00000647346.1:n.1495C>T
ENST00000299427.10:c.475C>T	ENSP00000299427.6:p.Leu159Phe
ENST00000428886.6:n.497C>T
ENST00000436873.6:c.450+25C>T	ENSP00000398136.2:n.450+25C>T
ENST00000524788.1:n.28C>T
ENST00000528571.5:c.*215C>T	ENSP00000434647.1:n.*215C>T
ENST00000533371.5:c.-255C>T	ENSP00000437066.1:n.-255C>T
ENST00000534644.5:n.460C>T
ENST00000611494.4:c.475C>T	ENSP00000484546.1:p.Leu159Phe
NM_000391.3:c.475C>T	NP_000382.3:p.Leu159Phe
NM_000391.4:c.475C>T MANE Select	NP_000382.3:p.Leu159Phe