Canonical Allele Identifier: CA379472075

Gene: TPP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1508G>C	ENSP00000507321.1:p.Gly503Ala
ENST00000299427.12:c.1622G>C MANE Select	ENSP00000299427.6:p.Gly541Ala
ENST00000524611.2:n.661G>C
ENST00000524924.2:n.742G>C
ENST00000533371.6:c.893G>C	ENSP00000437066.1:p.Gly298Ala
ENST00000642892.1:c.893G>C	ENSP00000494165.1:p.Gly298Ala
ENST00000643342.1:c.695G>C
ENST00000643439.1:c.*1362G>C	ENSP00000495849.1:n.*1362G>C
ENST00000643479.1:n.1808G>C
ENST00000643516.1:c.1131G>C
ENST00000644218.1:c.1433G>C	ENSP00000493574.1:p.Gly478Ala
ENST00000644683.1:c.*1075G>C	ENSP00000494085.1:n.*1075G>C
ENST00000644810.1:c.1343G>C	ENSP00000495895.1:p.Gly448Ala
ENST00000644831.1:n.1798G>C
ENST00000644933.1:c.*488G>C	ENSP00000496133.1:n.*488G>C
ENST00000645285.1:c.*488G>C	ENSP00000495058.1:n.*488G>C
ENST00000645331.1:n.2827G>C
ENST00000645620.1:c.893G>C	ENSP00000493657.1:p.Gly298Ala
ENST00000646691.1:n.1509G>C
ENST00000646777.1:n.1955G>C
ENST00000647016.1:n.2102G>C
ENST00000647152.1:c.893G>C	ENSP00000495893.1:p.Gly298Ala
ENST00000647209.1:c.*1491G>C	ENSP00000495558.1:n.*1491G>C
ENST00000647346.1:n.2642G>C
ENST00000299427.10:c.1622G>C	ENSP00000299427.6:p.Gly541Ala
ENST00000533371.5:c.893G>C	ENSP00000437066.1:p.Gly298Ala
ENST00000611494.4:c.1622G>C	ENSP00000484546.1:p.Gly541Ala
NM_000391.3:c.1622G>C	NP_000382.3:p.Gly541Ala
NM_000391.4:c.1622G>C MANE Select	NP_000382.3:p.Gly541Ala