Canonical Allele Identifier: CA379472076

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635847C>T (hg19) ; chr11:g.6614616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614616C>T , CM000673.2:g.6614616C>T	GRCh38
NC_000011.9:g.6635847C>T , CM000673.1:g.6635847C>T	GRCh37
NC_000011.8:g.6592423C>T	NCBI36
NG_008653.1:g.9846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1508G>A	ENSP00000507321.1:p.Gly503Asp
ENST00000299427.12:c.1622G>A MANE Select	ENSP00000299427.6:p.Gly541Asp
ENST00000524611.2:n.661G>A
ENST00000524924.2:n.742G>A
ENST00000533371.6:c.893G>A	ENSP00000437066.1:p.Gly298Asp
ENST00000642892.1:c.893G>A	ENSP00000494165.1:p.Gly298Asp
ENST00000643342.1:c.695G>A
ENST00000643439.1:c.*1362G>A	ENSP00000495849.1:n.*1362G>A
ENST00000643479.1:n.1808G>A
ENST00000643516.1:c.1131G>A
ENST00000644218.1:c.1433G>A	ENSP00000493574.1:p.Gly478Asp
ENST00000644683.1:c.*1075G>A	ENSP00000494085.1:n.*1075G>A
ENST00000644810.1:c.1343G>A	ENSP00000495895.1:p.Gly448Asp
ENST00000644831.1:n.1798G>A
ENST00000644933.1:c.*488G>A	ENSP00000496133.1:n.*488G>A
ENST00000645285.1:c.*488G>A	ENSP00000495058.1:n.*488G>A
ENST00000645331.1:n.2827G>A
ENST00000645620.1:c.893G>A	ENSP00000493657.1:p.Gly298Asp
ENST00000646691.1:n.1509G>A
ENST00000646777.1:n.1955G>A
ENST00000647016.1:n.2102G>A
ENST00000647152.1:c.893G>A	ENSP00000495893.1:p.Gly298Asp
ENST00000647209.1:c.*1491G>A	ENSP00000495558.1:n.*1491G>A
ENST00000647346.1:n.2642G>A
ENST00000299427.10:c.1622G>A	ENSP00000299427.6:p.Gly541Asp
ENST00000533371.5:c.893G>A	ENSP00000437066.1:p.Gly298Asp
ENST00000611494.4:c.1622G>A	ENSP00000484546.1:p.Gly541Asp
NM_000391.3:c.1622G>A	NP_000382.3:p.Gly541Asp
NM_000391.4:c.1622G>A MANE Select	NP_000382.3:p.Gly541Asp