Canonical Allele Identifier: CA379475419

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638261A>G (hg19) ; chr11:g.6617030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617030A>G , CM000673.2:g.6617030A>G	GRCh38
NC_000011.9:g.6638261A>G , CM000673.1:g.6638261A>G	GRCh37
NC_000011.8:g.6594837A>G	NCBI36
NG_008653.1:g.7432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.518T>C	ENSP00000507321.1:p.Leu173Ser
ENST00000299427.12:c.632T>C MANE Select	ENSP00000299427.6:p.Leu211Ser
ENST00000436873.7:c.312+271T>C
ENST00000524788.2:n.1791T>C
ENST00000524903.2:n.1907T>C
ENST00000528807.2:n.288T>C
ENST00000530040.2:n.479+329T>C
ENST00000533371.6:c.-98T>C	ENSP00000437066.1:n.-98T>C
ENST00000534644.6:n.580T>C
ENST00000642892.1:c.-98T>C	ENSP00000494165.1:n.-98T>C
ENST00000643439.1:c.*372T>C	ENSP00000495849.1:n.*372T>C
ENST00000643479.1:n.661T>C
ENST00000643516.1:c.395+271T>C
ENST00000644151.1:n.2071T>C
ENST00000644218.1:c.632T>C	ENSP00000493574.1:p.Leu211Ser
ENST00000644683.1:c.*85T>C	ENSP00000494085.1:n.*85T>C
ENST00000644810.1:c.353T>C	ENSP00000495895.1:p.Leu118Ser
ENST00000644831.1:n.808T>C
ENST00000644933.1:c.-98T>C	ENSP00000496133.1:n.-98T>C
ENST00000645020.1:n.1807T>C
ENST00000645285.1:c.-98T>C	ENSP00000495058.1:n.-98T>C
ENST00000645331.1:n.998T>C
ENST00000645620.1:c.-98T>C	ENSP00000493657.1:n.-98T>C
ENST00000646777.1:n.808T>C
ENST00000647016.1:n.1112T>C
ENST00000647152.1:c.-98T>C	ENSP00000495893.1:n.-98T>C
ENST00000647209.1:c.*501T>C	ENSP00000495558.1:n.*501T>C
ENST00000647346.1:n.1652T>C
ENST00000299427.10:c.632T>C	ENSP00000299427.6:p.Leu211Ser
ENST00000428886.6:n.801T>C
ENST00000436873.6:c.450+329T>C	ENSP00000398136.2:n.450+329T>C
ENST00000524788.1:n.332T>C
ENST00000528571.5:c.*372T>C	ENSP00000434647.1:n.*372T>C
ENST00000528807.1:n.182T>C
ENST00000533371.5:c.-98T>C	ENSP00000437066.1:n.-98T>C
ENST00000534644.5:n.617T>C
ENST00000611494.4:c.632T>C	ENSP00000484546.1:p.Leu211Ser
NM_000391.3:c.632T>C	NP_000382.3:p.Leu211Ser
NM_000391.4:c.632T>C MANE Select	NP_000382.3:p.Leu211Ser