Canonical Allele Identifier: CA379475415

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638260C>A (hg19) ; chr11:g.6617029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617029C>A , CM000673.2:g.6617029C>A	GRCh38
NC_000011.9:g.6638260C>A , CM000673.1:g.6638260C>A	GRCh37
NC_000011.8:g.6594836C>A	NCBI36
NG_008653.1:g.7433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.519G>T	ENSP00000507321.1:p.Leu173Phe
ENST00000299427.12:c.633G>T MANE Select	ENSP00000299427.6:p.Leu211Phe
ENST00000436873.7:c.312+272G>T
ENST00000524788.2:n.1792G>T
ENST00000524903.2:n.1908G>T
ENST00000528807.2:n.289G>T
ENST00000530040.2:n.479+330G>T
ENST00000533371.6:c.-97G>T	ENSP00000437066.1:n.-97G>T
ENST00000534644.6:n.581G>T
ENST00000642892.1:c.-97G>T	ENSP00000494165.1:n.-97G>T
ENST00000643439.1:c.*373G>T	ENSP00000495849.1:n.*373G>T
ENST00000643479.1:n.662G>T
ENST00000643516.1:c.395+272G>T
ENST00000644151.1:n.2072G>T
ENST00000644218.1:c.633G>T	ENSP00000493574.1:p.Leu211Phe
ENST00000644683.1:c.*86G>T	ENSP00000494085.1:n.*86G>T
ENST00000644810.1:c.354G>T	ENSP00000495895.1:p.Leu118Phe
ENST00000644831.1:n.809G>T
ENST00000644933.1:c.-97G>T	ENSP00000496133.1:n.-97G>T
ENST00000645020.1:n.1808G>T
ENST00000645285.1:c.-97G>T	ENSP00000495058.1:n.-97G>T
ENST00000645331.1:n.999G>T
ENST00000645620.1:c.-97G>T	ENSP00000493657.1:n.-97G>T
ENST00000646777.1:n.809G>T
ENST00000647016.1:n.1113G>T
ENST00000647152.1:c.-97G>T	ENSP00000495893.1:n.-97G>T
ENST00000647209.1:c.*502G>T	ENSP00000495558.1:n.*502G>T
ENST00000647346.1:n.1653G>T
ENST00000299427.10:c.633G>T	ENSP00000299427.6:p.Leu211Phe
ENST00000428886.6:n.802G>T
ENST00000436873.6:c.450+330G>T	ENSP00000398136.2:n.450+330G>T
ENST00000524788.1:n.333G>T
ENST00000528571.5:c.*373G>T	ENSP00000434647.1:n.*373G>T
ENST00000528807.1:n.183G>T
ENST00000533371.5:c.-97G>T	ENSP00000437066.1:n.-97G>T
ENST00000534644.5:n.618G>T
ENST00000611494.4:c.633G>T	ENSP00000484546.1:p.Leu211Phe
NM_000391.3:c.633G>T	NP_000382.3:p.Leu211Phe
NM_000391.4:c.633G>T MANE Select	NP_000382.3:p.Leu211Phe