Canonical Allele Identifier: CA379475394

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638249T>C (hg19) ; chr11:g.6617018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617018T>C , CM000673.2:g.6617018T>C	GRCh38
NC_000011.9:g.6638249T>C , CM000673.1:g.6638249T>C	GRCh37
NC_000011.8:g.6594825T>C	NCBI36
NG_008653.1:g.7444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.530A>G	ENSP00000507321.1:p.Asp177Gly
ENST00000299427.12:c.644A>G MANE Select	ENSP00000299427.6:p.Asp215Gly
ENST00000436873.7:c.312+283A>G
ENST00000524788.2:n.1803A>G
ENST00000524903.2:n.1919A>G
ENST00000528807.2:n.300A>G
ENST00000530040.2:n.479+341A>G
ENST00000533371.6:c.-86A>G	ENSP00000437066.1:n.-86A>G
ENST00000534644.6:n.592A>G
ENST00000642892.1:c.-86A>G	ENSP00000494165.1:n.-86A>G
ENST00000643439.1:c.*384A>G	ENSP00000495849.1:n.*384A>G
ENST00000643479.1:n.673A>G
ENST00000643516.1:c.395+283A>G
ENST00000644151.1:n.2083A>G
ENST00000644218.1:c.644A>G	ENSP00000493574.1:p.Asp215Gly
ENST00000644683.1:c.*97A>G	ENSP00000494085.1:n.*97A>G
ENST00000644810.1:c.365A>G	ENSP00000495895.1:p.Asp122Gly
ENST00000644831.1:n.820A>G
ENST00000644933.1:c.-86A>G	ENSP00000496133.1:n.-86A>G
ENST00000645020.1:n.1819A>G
ENST00000645285.1:c.-86A>G	ENSP00000495058.1:n.-86A>G
ENST00000645331.1:n.1010A>G
ENST00000645620.1:c.-86A>G	ENSP00000493657.1:n.-86A>G
ENST00000646777.1:n.820A>G
ENST00000647016.1:n.1124A>G
ENST00000647152.1:c.-86A>G	ENSP00000495893.1:n.-86A>G
ENST00000647209.1:c.*513A>G	ENSP00000495558.1:n.*513A>G
ENST00000647346.1:n.1664A>G
ENST00000299427.10:c.644A>G	ENSP00000299427.6:p.Asp215Gly
ENST00000428886.6:n.813A>G
ENST00000436873.6:c.450+341A>G	ENSP00000398136.2:n.450+341A>G
ENST00000524788.1:n.344A>G
ENST00000528571.5:c.*384A>G	ENSP00000434647.1:n.*384A>G
ENST00000528807.1:n.194A>G
ENST00000533371.5:c.-86A>G	ENSP00000437066.1:n.-86A>G
ENST00000534644.5:n.629A>G
ENST00000611494.4:c.644A>G	ENSP00000484546.1:p.Asp215Gly
NM_000391.3:c.644A>G	NP_000382.3:p.Asp215Gly
NM_000391.4:c.644A>G MANE Select	NP_000382.3:p.Asp215Gly