Canonical Allele Identifier: CA379472563

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636430A>G (hg19) ; chr11:g.6615199A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615199A>G , CM000673.2:g.6615199A>G	GRCh38
NC_000011.9:g.6636430A>G , CM000673.1:g.6636430A>G	GRCh37
NC_000011.8:g.6593006A>G	NCBI36
NG_008653.1:g.9263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1283T>C	ENSP00000507321.1:p.Val428Ala
ENST00000299427.12:c.1397T>C MANE Select	ENSP00000299427.6:p.Val466Ala
ENST00000524611.2:n.257T>C
ENST00000524924.2:n.517T>C
ENST00000533371.6:c.668T>C	ENSP00000437066.1:p.Val223Ala
ENST00000642892.1:c.668T>C	ENSP00000494165.1:p.Val223Ala
ENST00000643342.1:c.470T>C
ENST00000643439.1:c.*1137T>C	ENSP00000495849.1:n.*1137T>C
ENST00000643479.1:n.1583T>C
ENST00000643516.1:c.906T>C
ENST00000644218.1:c.1208T>C	ENSP00000493574.1:p.Val403Ala
ENST00000644683.1:c.*850T>C	ENSP00000494085.1:n.*850T>C
ENST00000644810.1:c.1118T>C	ENSP00000495895.1:p.Val373Ala
ENST00000644831.1:n.1573T>C
ENST00000644933.1:c.*263T>C	ENSP00000496133.1:n.*263T>C
ENST00000645285.1:c.*263T>C	ENSP00000495058.1:n.*263T>C
ENST00000645331.1:n.2602T>C
ENST00000645620.1:c.668T>C	ENSP00000493657.1:p.Val223Ala
ENST00000646691.1:n.1284T>C
ENST00000646777.1:n.1730T>C
ENST00000647016.1:n.1877T>C
ENST00000647152.1:c.668T>C	ENSP00000495893.1:p.Val223Ala
ENST00000647209.1:c.*1266T>C	ENSP00000495558.1:n.*1266T>C
ENST00000647346.1:n.2417T>C
ENST00000299427.10:c.1397T>C	ENSP00000299427.6:p.Val466Ala
ENST00000524611.1:n.275T>C
ENST00000533371.5:c.668T>C	ENSP00000437066.1:p.Val223Ala
ENST00000611494.4:c.1397T>C	ENSP00000484546.1:p.Val466Ala
NM_000391.3:c.1397T>C	NP_000382.3:p.Val466Ala
NM_000391.4:c.1397T>C MANE Select	NP_000382.3:p.Val466Ala