Canonical Allele Identifier: CA379472874

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636681A>G (hg19) ; chr11:g.6615450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615450A>G , CM000673.2:g.6615450A>G	GRCh38
NC_000011.9:g.6636681A>G , CM000673.1:g.6636681A>G	GRCh37
NC_000011.8:g.6593257A>G	NCBI36
NG_008653.1:g.9012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1144T>C	ENSP00000507321.1:p.Ser382Pro
ENST00000299427.12:c.1258T>C MANE Select	ENSP00000299427.6:p.Ser420Pro
ENST00000436873.7:c.495T>C
ENST00000524611.2:n.6T>C
ENST00000524924.2:n.378T>C
ENST00000533371.6:c.529T>C	ENSP00000437066.1:p.Ser177Pro
ENST00000642892.1:c.529T>C	ENSP00000494165.1:p.Ser177Pro
ENST00000643342.1:c.331T>C
ENST00000643439.1:c.*998T>C	ENSP00000495849.1:n.*998T>C
ENST00000643479.1:n.1444T>C
ENST00000643516.1:c.767T>C
ENST00000644218.1:c.1069T>C	ENSP00000493574.1:p.Ser357Pro
ENST00000644683.1:c.*711T>C	ENSP00000494085.1:n.*711T>C
ENST00000644810.1:c.979T>C	ENSP00000495895.1:p.Ser327Pro
ENST00000644831.1:n.1434T>C
ENST00000644933.1:c.*124T>C	ENSP00000496133.1:n.*124T>C
ENST00000645285.1:c.*124T>C	ENSP00000495058.1:n.*124T>C
ENST00000645331.1:n.2463T>C
ENST00000645620.1:c.529T>C	ENSP00000493657.1:p.Ser177Pro
ENST00000646691.1:n.1033T>C
ENST00000646777.1:n.1591T>C
ENST00000647016.1:n.1738T>C
ENST00000647152.1:c.529T>C	ENSP00000495893.1:p.Ser177Pro
ENST00000647209.1:c.*1127T>C	ENSP00000495558.1:n.*1127T>C
ENST00000647346.1:n.2278T>C
ENST00000299427.10:c.1258T>C	ENSP00000299427.6:p.Ser420Pro
ENST00000524611.1:n.24T>C
ENST00000524924.1:n.213T>C
ENST00000532191.1:n.311T>C
ENST00000533371.5:c.529T>C	ENSP00000437066.1:p.Ser177Pro
ENST00000611494.4:c.1258T>C	ENSP00000484546.1:p.Ser420Pro
NM_000391.3:c.1258T>C	NP_000382.3:p.Ser420Pro
NM_000391.4:c.1258T>C MANE Select	NP_000382.3:p.Ser420Pro