Canonical Allele Identifier: CA379472627

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636458C>G (hg19) ; chr11:g.6615227C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615227C>G , CM000673.2:g.6615227C>G	GRCh38
NC_000011.9:g.6636458C>G , CM000673.1:g.6636458C>G	GRCh37
NC_000011.8:g.6593034C>G	NCBI36
NG_008653.1:g.9235G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1255G>C	ENSP00000507321.1:p.Asp419His
ENST00000299427.12:c.1369G>C MANE Select	ENSP00000299427.6:p.Asp457His
ENST00000524611.2:n.229G>C
ENST00000524924.2:n.489G>C
ENST00000533371.6:c.640G>C	ENSP00000437066.1:p.Asp214His
ENST00000642892.1:c.640G>C	ENSP00000494165.1:p.Asp214His
ENST00000643342.1:c.442G>C
ENST00000643439.1:c.*1109G>C	ENSP00000495849.1:n.*1109G>C
ENST00000643479.1:n.1555G>C
ENST00000643516.1:c.878G>C
ENST00000644218.1:c.1180G>C	ENSP00000493574.1:p.Asp394His
ENST00000644683.1:c.*822G>C	ENSP00000494085.1:n.*822G>C
ENST00000644810.1:c.1090G>C	ENSP00000495895.1:p.Asp364His
ENST00000644831.1:n.1545G>C
ENST00000644933.1:c.*235G>C	ENSP00000496133.1:n.*235G>C
ENST00000645285.1:c.*235G>C	ENSP00000495058.1:n.*235G>C
ENST00000645331.1:n.2574G>C
ENST00000645620.1:c.640G>C	ENSP00000493657.1:p.Asp214His
ENST00000646691.1:n.1256G>C
ENST00000646777.1:n.1702G>C
ENST00000647016.1:n.1849G>C
ENST00000647152.1:c.640G>C	ENSP00000495893.1:p.Asp214His
ENST00000647209.1:c.*1238G>C	ENSP00000495558.1:n.*1238G>C
ENST00000647346.1:n.2389G>C
ENST00000299427.10:c.1369G>C	ENSP00000299427.6:p.Asp457His
ENST00000524611.1:n.247G>C
ENST00000532191.1:n.422G>C
ENST00000533371.5:c.640G>C	ENSP00000437066.1:p.Asp214His
ENST00000611494.4:c.1369G>C	ENSP00000484546.1:p.Asp457His
NM_000391.3:c.1369G>C	NP_000382.3:p.Asp457His
NM_000391.4:c.1369G>C MANE Select	NP_000382.3:p.Asp457His