Canonical Allele Identifier: CA379472606

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615218-A-G
• MyVariant Identifiers: chr11:g.6636449A>G (hg19) ; chr11:g.6615218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615218A>G , CM000673.2:g.6615218A>G	GRCh38
NC_000011.9:g.6636449A>G , CM000673.1:g.6636449A>G	GRCh37
NC_000011.8:g.6593025A>G	NCBI36
NG_008653.1:g.9244T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1264T>C	ENSP00000507321.1:p.Trp422Arg
ENST00000299427.12:c.1378T>C MANE Select	ENSP00000299427.6:p.Trp460Arg
ENST00000524611.2:n.238T>C
ENST00000524924.2:n.498T>C
ENST00000533371.6:c.649T>C	ENSP00000437066.1:p.Trp217Arg
ENST00000642892.1:c.649T>C	ENSP00000494165.1:p.Trp217Arg
ENST00000643342.1:c.451T>C
ENST00000643439.1:c.*1118T>C	ENSP00000495849.1:n.*1118T>C
ENST00000643479.1:n.1564T>C
ENST00000643516.1:c.887T>C
ENST00000644218.1:c.1189T>C	ENSP00000493574.1:p.Trp397Arg
ENST00000644683.1:c.*831T>C	ENSP00000494085.1:n.*831T>C
ENST00000644810.1:c.1099T>C	ENSP00000495895.1:p.Trp367Arg
ENST00000644831.1:n.1554T>C
ENST00000644933.1:c.*244T>C	ENSP00000496133.1:n.*244T>C
ENST00000645285.1:c.*244T>C	ENSP00000495058.1:n.*244T>C
ENST00000645331.1:n.2583T>C
ENST00000645620.1:c.649T>C	ENSP00000493657.1:p.Trp217Arg
ENST00000646691.1:n.1265T>C
ENST00000646777.1:n.1711T>C
ENST00000647016.1:n.1858T>C
ENST00000647152.1:c.649T>C	ENSP00000495893.1:p.Trp217Arg
ENST00000647209.1:c.*1247T>C	ENSP00000495558.1:n.*1247T>C
ENST00000647346.1:n.2398T>C
ENST00000299427.10:c.1378T>C	ENSP00000299427.6:p.Trp460Arg
ENST00000524611.1:n.256T>C
ENST00000532191.1:n.431T>C
ENST00000533371.5:c.649T>C	ENSP00000437066.1:p.Trp217Arg
ENST00000611494.4:c.1378T>C	ENSP00000484546.1:p.Trp460Arg
NM_000391.3:c.1378T>C	NP_000382.3:p.Trp460Arg
NM_000391.4:c.1378T>C MANE Select	NP_000382.3:p.Trp460Arg