Canonical Allele Identifier: CA379472969

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636726C>G (hg19) ; chr11:g.6615495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615495C>G , CM000673.2:g.6615495C>G	GRCh38
NC_000011.9:g.6636726C>G , CM000673.1:g.6636726C>G	GRCh37
NC_000011.8:g.6593302C>G	NCBI36
NG_008653.1:g.8967G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1099G>C	ENSP00000507321.1:p.Asp367His
ENST00000299427.12:c.1213G>C MANE Select	ENSP00000299427.6:p.Asp405His
ENST00000436873.7:c.450G>C
ENST00000524924.2:n.333G>C
ENST00000533371.6:c.484G>C	ENSP00000437066.1:p.Asp162His
ENST00000642892.1:c.484G>C	ENSP00000494165.1:p.Asp162His
ENST00000643342.1:c.286G>C
ENST00000643439.1:c.*953G>C	ENSP00000495849.1:n.*953G>C
ENST00000643479.1:n.1399G>C
ENST00000643516.1:c.722G>C
ENST00000644218.1:c.1024G>C	ENSP00000493574.1:p.Asp342His
ENST00000644683.1:c.*666G>C	ENSP00000494085.1:n.*666G>C
ENST00000644810.1:c.934G>C	ENSP00000495895.1:p.Asp312His
ENST00000644831.1:n.1389G>C
ENST00000644933.1:c.*79G>C	ENSP00000496133.1:n.*79G>C
ENST00000645285.1:c.*79G>C	ENSP00000495058.1:n.*79G>C
ENST00000645331.1:n.2418G>C
ENST00000645620.1:c.484G>C	ENSP00000493657.1:p.Asp162His
ENST00000646691.1:n.988G>C
ENST00000646777.1:n.1546G>C
ENST00000647016.1:n.1693G>C
ENST00000647152.1:c.484G>C	ENSP00000495893.1:p.Asp162His
ENST00000647209.1:c.*1082G>C	ENSP00000495558.1:n.*1082G>C
ENST00000647346.1:n.2233G>C
ENST00000299427.10:c.1213G>C	ENSP00000299427.6:p.Asp405His
ENST00000524924.1:n.168G>C
ENST00000532191.1:n.266G>C
ENST00000533371.5:c.484G>C	ENSP00000437066.1:p.Asp162His
ENST00000611494.4:c.1213G>C	ENSP00000484546.1:p.Asp405His
NM_000391.3:c.1213G>C	NP_000382.3:p.Asp405His
NM_000391.4:c.1213G>C MANE Select	NP_000382.3:p.Asp405His