Canonical Allele Identifier: CA379472684

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636485C>G (hg19) ; chr11:g.6615254C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615254C>G , CM000673.2:g.6615254C>G	GRCh38
NC_000011.9:g.6636485C>G , CM000673.1:g.6636485C>G	GRCh37
NC_000011.8:g.6593061C>G	NCBI36
NG_008653.1:g.9208G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1228G>C	ENSP00000507321.1:p.Ala410Pro
ENST00000299427.12:c.1342G>C MANE Select	ENSP00000299427.6:p.Ala448Pro
ENST00000524611.2:n.202G>C
ENST00000524924.2:n.462G>C
ENST00000533371.6:c.613G>C	ENSP00000437066.1:p.Ala205Pro
ENST00000642892.1:c.613G>C	ENSP00000494165.1:p.Ala205Pro
ENST00000643342.1:c.415G>C
ENST00000643439.1:c.*1082G>C	ENSP00000495849.1:n.*1082G>C
ENST00000643479.1:n.1528G>C
ENST00000643516.1:c.851G>C
ENST00000644218.1:c.1153G>C	ENSP00000493574.1:p.Ala385Pro
ENST00000644683.1:c.*795G>C	ENSP00000494085.1:n.*795G>C
ENST00000644810.1:c.1063G>C	ENSP00000495895.1:p.Ala355Pro
ENST00000644831.1:n.1518G>C
ENST00000644933.1:c.*208G>C	ENSP00000496133.1:n.*208G>C
ENST00000645285.1:c.*208G>C	ENSP00000495058.1:n.*208G>C
ENST00000645331.1:n.2547G>C
ENST00000645620.1:c.613G>C	ENSP00000493657.1:p.Ala205Pro
ENST00000646691.1:n.1229G>C
ENST00000646777.1:n.1675G>C
ENST00000647016.1:n.1822G>C
ENST00000647152.1:c.613G>C	ENSP00000495893.1:p.Ala205Pro
ENST00000647209.1:c.*1211G>C	ENSP00000495558.1:n.*1211G>C
ENST00000647346.1:n.2362G>C
ENST00000299427.10:c.1342G>C	ENSP00000299427.6:p.Ala448Pro
ENST00000524611.1:n.220G>C
ENST00000532191.1:n.395G>C
ENST00000533371.5:c.613G>C	ENSP00000437066.1:p.Ala205Pro
ENST00000611494.4:c.1342G>C	ENSP00000484546.1:p.Ala448Pro
NM_000391.3:c.1342G>C	NP_000382.3:p.Ala448Pro
NM_000391.4:c.1342G>C MANE Select	NP_000382.3:p.Ala448Pro