Canonical Allele Identifier: CA379475318

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638214A>C (hg19) ; chr11:g.6616983A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616983A>C , CM000673.2:g.6616983A>C	GRCh38
NC_000011.9:g.6638214A>C , CM000673.1:g.6638214A>C	GRCh37
NC_000011.8:g.6594790A>C	NCBI36
NG_008653.1:g.7479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.565T>G	ENSP00000507321.1:p.Cys189Gly
ENST00000299427.12:c.679T>G MANE Select	ENSP00000299427.6:p.Cys227Gly
ENST00000436873.7:c.312+318T>G
ENST00000524788.2:n.1838T>G
ENST00000524903.2:n.1954T>G
ENST00000528807.2:n.335T>G
ENST00000530040.2:n.479+376T>G
ENST00000533371.6:c.-51T>G	ENSP00000437066.1:n.-51T>G
ENST00000534644.6:n.627T>G
ENST00000642892.1:c.-51T>G	ENSP00000494165.1:n.-51T>G
ENST00000643439.1:c.*419T>G	ENSP00000495849.1:n.*419T>G
ENST00000643479.1:n.708T>G
ENST00000643516.1:c.395+318T>G
ENST00000644151.1:n.2118T>G
ENST00000644218.1:c.679T>G	ENSP00000493574.1:p.Cys227Gly
ENST00000644683.1:c.*132T>G	ENSP00000494085.1:n.*132T>G
ENST00000644810.1:c.400T>G	ENSP00000495895.1:p.Cys134Gly
ENST00000644831.1:n.855T>G
ENST00000644933.1:c.-51T>G	ENSP00000496133.1:n.-51T>G
ENST00000645020.1:n.1854T>G
ENST00000645285.1:c.-51T>G	ENSP00000495058.1:n.-51T>G
ENST00000645331.1:n.1045T>G
ENST00000645620.1:c.-51T>G	ENSP00000493657.1:n.-51T>G
ENST00000646777.1:n.855T>G
ENST00000647016.1:n.1159T>G
ENST00000647152.1:c.-51T>G	ENSP00000495893.1:n.-51T>G
ENST00000647209.1:c.*548T>G	ENSP00000495558.1:n.*548T>G
ENST00000647346.1:n.1699T>G
ENST00000299427.10:c.679T>G	ENSP00000299427.6:p.Cys227Gly
ENST00000436873.6:c.450+376T>G	ENSP00000398136.2:n.450+376T>G
ENST00000524788.1:n.379T>G
ENST00000528571.5:c.*419T>G	ENSP00000434647.1:n.*419T>G
ENST00000528807.1:n.229T>G
ENST00000533371.5:c.-51T>G	ENSP00000437066.1:n.-51T>G
ENST00000611494.4:c.679T>G	ENSP00000484546.1:p.Cys227Gly
NM_000391.3:c.679T>G	NP_000382.3:p.Cys227Gly
NM_000391.4:c.679T>G MANE Select	NP_000382.3:p.Cys227Gly