Canonical Allele Identifier: CA379472118

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614636-C-G
• MyVariant Identifiers: chr11:g.6635867C>G (hg19) ; chr11:g.6614636C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614636C>G , CM000673.2:g.6614636C>G	GRCh38
NC_000011.9:g.6635867C>G , CM000673.1:g.6635867C>G	GRCh37
NC_000011.8:g.6592443C>G	NCBI36
NG_008653.1:g.9826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1488G>C	ENSP00000507321.1:p.Gln496His
ENST00000299427.12:c.1602G>C MANE Select	ENSP00000299427.6:p.Gln534His
ENST00000524611.2:n.641G>C
ENST00000524924.2:n.722G>C
ENST00000533371.6:c.873G>C	ENSP00000437066.1:p.Gln291His
ENST00000642892.1:c.873G>C	ENSP00000494165.1:p.Gln291His
ENST00000643342.1:c.675G>C
ENST00000643439.1:c.*1342G>C	ENSP00000495849.1:n.*1342G>C
ENST00000643479.1:n.1788G>C
ENST00000643516.1:c.1111G>C
ENST00000644218.1:c.1413G>C	ENSP00000493574.1:p.Gln471His
ENST00000644683.1:c.*1055G>C	ENSP00000494085.1:n.*1055G>C
ENST00000644810.1:c.1323G>C	ENSP00000495895.1:p.Gln441His
ENST00000644831.1:n.1778G>C
ENST00000644933.1:c.*468G>C	ENSP00000496133.1:n.*468G>C
ENST00000645285.1:c.*468G>C	ENSP00000495058.1:n.*468G>C
ENST00000645331.1:n.2807G>C
ENST00000645620.1:c.873G>C	ENSP00000493657.1:p.Gln291His
ENST00000646691.1:n.1489G>C
ENST00000646777.1:n.1935G>C
ENST00000647016.1:n.2082G>C
ENST00000647152.1:c.873G>C	ENSP00000495893.1:p.Gln291His
ENST00000647209.1:c.*1471G>C	ENSP00000495558.1:n.*1471G>C
ENST00000647346.1:n.2622G>C
ENST00000299427.10:c.1602G>C	ENSP00000299427.6:p.Gln534His
ENST00000533371.5:c.873G>C	ENSP00000437066.1:p.Gln291His
ENST00000611494.4:c.1602G>C	ENSP00000484546.1:p.Gln534His
NM_000391.3:c.1602G>C	NP_000382.3:p.Gln534His
NM_000391.4:c.1602G>C MANE Select	NP_000382.3:p.Gln534His