Canonical Allele Identifier: CA379472038

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635829C>T (hg19) ; chr11:g.6614598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614598C>T , CM000673.2:g.6614598C>T	GRCh38
NC_000011.9:g.6635829C>T , CM000673.1:g.6635829C>T	GRCh37
NC_000011.8:g.6592405C>T	NCBI36
NG_008653.1:g.9864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1526G>A	ENSP00000507321.1:p.Gly509Asp
ENST00000299427.12:c.1640G>A MANE Select	ENSP00000299427.6:p.Gly547Asp
ENST00000524611.2:n.679G>A
ENST00000533371.6:c.911G>A	ENSP00000437066.1:p.Gly304Asp
ENST00000642892.1:c.911G>A	ENSP00000494165.1:p.Gly304Asp
ENST00000643342.1:c.713G>A
ENST00000643439.1:c.*1380G>A	ENSP00000495849.1:n.*1380G>A
ENST00000643479.1:n.1826G>A
ENST00000643516.1:c.1149G>A
ENST00000644218.1:c.1451G>A	ENSP00000493574.1:p.Gly484Asp
ENST00000644683.1:c.*1093G>A	ENSP00000494085.1:n.*1093G>A
ENST00000644810.1:c.1361G>A	ENSP00000495895.1:p.Gly454Asp
ENST00000644831.1:n.1816G>A
ENST00000644933.1:c.*506G>A	ENSP00000496133.1:n.*506G>A
ENST00000645285.1:c.*506G>A	ENSP00000495058.1:n.*506G>A
ENST00000645331.1:n.2845G>A
ENST00000645620.1:c.911G>A	ENSP00000493657.1:p.Gly304Asp
ENST00000646691.1:n.1527G>A
ENST00000646777.1:n.1973G>A
ENST00000647016.1:n.2120G>A
ENST00000647152.1:c.911G>A	ENSP00000495893.1:p.Gly304Asp
ENST00000647209.1:c.*1509G>A	ENSP00000495558.1:n.*1509G>A
ENST00000647346.1:n.2660G>A
ENST00000299427.10:c.1640G>A	ENSP00000299427.6:p.Gly547Asp
ENST00000533371.5:c.911G>A	ENSP00000437066.1:p.Gly304Asp
ENST00000611494.4:c.1640G>A	ENSP00000484546.1:p.Gly547Asp
NM_000391.3:c.1640G>A	NP_000382.3:p.Gly547Asp
NM_000391.4:c.1640G>A MANE Select	NP_000382.3:p.Gly547Asp