Canonical Allele Identifier: CA379472682

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636484G>T (hg19) ; chr11:g.6615253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615253G>T , CM000673.2:g.6615253G>T	GRCh38
NC_000011.9:g.6636484G>T , CM000673.1:g.6636484G>T	GRCh37
NC_000011.8:g.6593060G>T	NCBI36
NG_008653.1:g.9209C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1229C>A	ENSP00000507321.1:p.Ala410Asp
ENST00000299427.12:c.1343C>A MANE Select	ENSP00000299427.6:p.Ala448Asp
ENST00000524611.2:n.203C>A
ENST00000524924.2:n.463C>A
ENST00000533371.6:c.614C>A	ENSP00000437066.1:p.Ala205Asp
ENST00000642892.1:c.614C>A	ENSP00000494165.1:p.Ala205Asp
ENST00000643342.1:c.416C>A
ENST00000643439.1:c.*1083C>A	ENSP00000495849.1:n.*1083C>A
ENST00000643479.1:n.1529C>A
ENST00000643516.1:c.852C>A
ENST00000644218.1:c.1154C>A	ENSP00000493574.1:p.Ala385Asp
ENST00000644683.1:c.*796C>A	ENSP00000494085.1:n.*796C>A
ENST00000644810.1:c.1064C>A	ENSP00000495895.1:p.Ala355Asp
ENST00000644831.1:n.1519C>A
ENST00000644933.1:c.*209C>A	ENSP00000496133.1:n.*209C>A
ENST00000645285.1:c.*209C>A	ENSP00000495058.1:n.*209C>A
ENST00000645331.1:n.2548C>A
ENST00000645620.1:c.614C>A	ENSP00000493657.1:p.Ala205Asp
ENST00000646691.1:n.1230C>A
ENST00000646777.1:n.1676C>A
ENST00000647016.1:n.1823C>A
ENST00000647152.1:c.614C>A	ENSP00000495893.1:p.Ala205Asp
ENST00000647209.1:c.*1212C>A	ENSP00000495558.1:n.*1212C>A
ENST00000647346.1:n.2363C>A
ENST00000299427.10:c.1343C>A	ENSP00000299427.6:p.Ala448Asp
ENST00000524611.1:n.221C>A
ENST00000532191.1:n.396C>A
ENST00000533371.5:c.614C>A	ENSP00000437066.1:p.Ala205Asp
ENST00000611494.4:c.1343C>A	ENSP00000484546.1:p.Ala448Asp
NM_000391.3:c.1343C>A	NP_000382.3:p.Ala448Asp
NM_000391.4:c.1343C>A MANE Select	NP_000382.3:p.Ala448Asp