Canonical Allele Identifier: CA379473096

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636762A>G (hg19) ; chr11:g.6615531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615531A>G , CM000673.2:g.6615531A>G	GRCh38
NC_000011.9:g.6636762A>G , CM000673.1:g.6636762A>G	GRCh37
NC_000011.8:g.6593338A>G	NCBI36
NG_008653.1:g.8931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1063T>C	ENSP00000507321.1:p.Phe355Leu
ENST00000299427.12:c.1177T>C MANE Select	ENSP00000299427.6:p.Phe393Leu
ENST00000436873.7:c.414T>C
ENST00000524924.2:n.297T>C
ENST00000533371.6:c.448T>C	ENSP00000437066.1:p.Phe150Leu
ENST00000642892.1:c.448T>C	ENSP00000494165.1:p.Phe150Leu
ENST00000643342.1:c.250T>C
ENST00000643439.1:c.*917T>C	ENSP00000495849.1:n.*917T>C
ENST00000643479.1:n.1363T>C
ENST00000643516.1:c.686T>C
ENST00000644218.1:c.988T>C	ENSP00000493574.1:p.Phe330Leu
ENST00000644683.1:c.*630T>C	ENSP00000494085.1:n.*630T>C
ENST00000644810.1:c.898T>C	ENSP00000495895.1:p.Phe300Leu
ENST00000644831.1:n.1353T>C
ENST00000644933.1:c.*43T>C	ENSP00000496133.1:n.*43T>C
ENST00000645285.1:c.*43T>C	ENSP00000495058.1:n.*43T>C
ENST00000645331.1:n.2382T>C
ENST00000645620.1:c.448T>C	ENSP00000493657.1:p.Phe150Leu
ENST00000646691.1:n.952T>C
ENST00000646777.1:n.1510T>C
ENST00000647016.1:n.1657T>C
ENST00000647152.1:c.448T>C	ENSP00000495893.1:p.Phe150Leu
ENST00000647209.1:c.*1046T>C	ENSP00000495558.1:n.*1046T>C
ENST00000647346.1:n.2197T>C
ENST00000299427.10:c.1177T>C	ENSP00000299427.6:p.Phe393Leu
ENST00000524924.1:n.132T>C
ENST00000532191.1:n.230T>C
ENST00000533371.5:c.448T>C	ENSP00000437066.1:p.Phe150Leu
ENST00000611494.4:c.1177T>C	ENSP00000484546.1:p.Phe393Leu
NM_000391.3:c.1177T>C	NP_000382.3:p.Phe393Leu
NM_000391.4:c.1177T>C MANE Select	NP_000382.3:p.Phe393Leu