Canonical Allele Identifier: CA379472569

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636433C>G (hg19) ; chr11:g.6615202C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615202C>G , CM000673.2:g.6615202C>G	GRCh38
NC_000011.9:g.6636433C>G , CM000673.1:g.6636433C>G	GRCh37
NC_000011.8:g.6593009C>G	NCBI36
NG_008653.1:g.9260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1280G>C	ENSP00000507321.1:p.Arg427Thr
ENST00000299427.12:c.1394G>C MANE Select	ENSP00000299427.6:p.Arg465Thr
ENST00000524611.2:n.254G>C
ENST00000524924.2:n.514G>C
ENST00000533371.6:c.665G>C	ENSP00000437066.1:p.Arg222Thr
ENST00000642892.1:c.665G>C	ENSP00000494165.1:p.Arg222Thr
ENST00000643342.1:c.467G>C
ENST00000643439.1:c.*1134G>C	ENSP00000495849.1:n.*1134G>C
ENST00000643479.1:n.1580G>C
ENST00000643516.1:c.903G>C
ENST00000644218.1:c.1205G>C	ENSP00000493574.1:p.Arg402Thr
ENST00000644683.1:c.*847G>C	ENSP00000494085.1:n.*847G>C
ENST00000644810.1:c.1115G>C	ENSP00000495895.1:p.Arg372Thr
ENST00000644831.1:n.1570G>C
ENST00000644933.1:c.*260G>C	ENSP00000496133.1:n.*260G>C
ENST00000645285.1:c.*260G>C	ENSP00000495058.1:n.*260G>C
ENST00000645331.1:n.2599G>C
ENST00000645620.1:c.665G>C	ENSP00000493657.1:p.Arg222Thr
ENST00000646691.1:n.1281G>C
ENST00000646777.1:n.1727G>C
ENST00000647016.1:n.1874G>C
ENST00000647152.1:c.665G>C	ENSP00000495893.1:p.Arg222Thr
ENST00000647209.1:c.*1263G>C	ENSP00000495558.1:n.*1263G>C
ENST00000647346.1:n.2414G>C
ENST00000299427.10:c.1394G>C	ENSP00000299427.6:p.Arg465Thr
ENST00000524611.1:n.272G>C
ENST00000533371.5:c.665G>C	ENSP00000437066.1:p.Arg222Thr
ENST00000611494.4:c.1394G>C	ENSP00000484546.1:p.Arg465Thr
NM_000391.3:c.1394G>C	NP_000382.3:p.Arg465Thr
NM_000391.4:c.1394G>C MANE Select	NP_000382.3:p.Arg465Thr