Canonical Allele Identifier: CA379472542

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636419A>G (hg19) ; chr11:g.6615188A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615188A>G , CM000673.2:g.6615188A>G	GRCh38
NC_000011.9:g.6636419A>G , CM000673.1:g.6636419A>G	GRCh37
NC_000011.8:g.6592995A>G	NCBI36
NG_008653.1:g.9274T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1294T>C	ENSP00000507321.1:p.Trp432Arg
ENST00000299427.12:c.1408T>C MANE Select	ENSP00000299427.6:p.Trp470Arg
ENST00000524611.2:n.268T>C
ENST00000524924.2:n.528T>C
ENST00000533371.6:c.679T>C	ENSP00000437066.1:p.Trp227Arg
ENST00000642892.1:c.679T>C	ENSP00000494165.1:p.Trp227Arg
ENST00000643342.1:c.481T>C
ENST00000643439.1:c.*1148T>C	ENSP00000495849.1:n.*1148T>C
ENST00000643479.1:n.1594T>C
ENST00000643516.1:c.917T>C
ENST00000644218.1:c.1219T>C	ENSP00000493574.1:p.Trp407Arg
ENST00000644683.1:c.*861T>C	ENSP00000494085.1:n.*861T>C
ENST00000644810.1:c.1129T>C	ENSP00000495895.1:p.Trp377Arg
ENST00000644831.1:n.1584T>C
ENST00000644933.1:c.*274T>C	ENSP00000496133.1:n.*274T>C
ENST00000645285.1:c.*274T>C	ENSP00000495058.1:n.*274T>C
ENST00000645331.1:n.2613T>C
ENST00000645620.1:c.679T>C	ENSP00000493657.1:p.Trp227Arg
ENST00000646691.1:n.1295T>C
ENST00000646777.1:n.1741T>C
ENST00000647016.1:n.1888T>C
ENST00000647152.1:c.679T>C	ENSP00000495893.1:p.Trp227Arg
ENST00000647209.1:c.*1277T>C	ENSP00000495558.1:n.*1277T>C
ENST00000647346.1:n.2428T>C
ENST00000299427.10:c.1408T>C	ENSP00000299427.6:p.Trp470Arg
ENST00000524611.1:n.286T>C
ENST00000533371.5:c.679T>C	ENSP00000437066.1:p.Trp227Arg
ENST00000611494.4:c.1408T>C	ENSP00000484546.1:p.Trp470Arg
NM_000391.3:c.1408T>C	NP_000382.3:p.Trp470Arg
NM_000391.4:c.1408T>C MANE Select	NP_000382.3:p.Trp470Arg