Canonical Allele Identifier: CA379475106

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638012A>G (hg19) ; chr11:g.6616781A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616781A>G , CM000673.2:g.6616781A>G	GRCh38
NC_000011.9:g.6638012A>G , CM000673.1:g.6638012A>G	GRCh37
NC_000011.8:g.6594588A>G	NCBI36
NG_008653.1:g.7681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.652T>C	ENSP00000507321.1:p.Ser218Pro
ENST00000299427.12:c.766T>C MANE Select	ENSP00000299427.6:p.Ser256Pro
ENST00000436873.7:c.312+520T>C
ENST00000524788.2:n.1925T>C
ENST00000524903.2:n.2041T>C
ENST00000528807.2:n.422T>C
ENST00000530040.2:n.480-278T>C
ENST00000533371.6:c.37T>C	ENSP00000437066.1:p.Ser13Pro
ENST00000642892.1:c.37T>C	ENSP00000494165.1:p.Ser13Pro
ENST00000643439.1:c.*506T>C	ENSP00000495849.1:n.*506T>C
ENST00000643479.1:n.795T>C
ENST00000643516.1:c.396-278T>C
ENST00000644151.1:n.2205T>C
ENST00000644218.1:c.766T>C	ENSP00000493574.1:p.Ser256Pro
ENST00000644683.1:c.*219T>C	ENSP00000494085.1:n.*219T>C
ENST00000644810.1:c.487T>C	ENSP00000495895.1:p.Ser163Pro
ENST00000644831.1:n.942T>C
ENST00000644933.1:c.37T>C	ENSP00000496133.1:p.Ser13Pro
ENST00000645020.1:n.2056T>C
ENST00000645285.1:c.37T>C	ENSP00000495058.1:p.Ser13Pro
ENST00000645331.1:n.1132T>C
ENST00000645620.1:c.37T>C	ENSP00000493657.1:p.Ser13Pro
ENST00000646777.1:n.942T>C
ENST00000647016.1:n.1246T>C
ENST00000647152.1:c.37T>C	ENSP00000495893.1:p.Ser13Pro
ENST00000647209.1:c.*635T>C	ENSP00000495558.1:n.*635T>C
ENST00000647346.1:n.1786T>C
ENST00000299427.10:c.766T>C	ENSP00000299427.6:p.Ser256Pro
ENST00000436873.6:c.451-278T>C	ENSP00000398136.2:n.451-278T>C
ENST00000524788.1:n.466T>C
ENST00000528807.1:n.316T>C
ENST00000533371.5:c.37T>C	ENSP00000437066.1:p.Ser13Pro
ENST00000611494.4:c.766T>C	ENSP00000484546.1:p.Ser256Pro
NM_000391.3:c.766T>C	NP_000382.3:p.Ser256Pro
NM_000391.4:c.766T>C MANE Select	NP_000382.3:p.Ser256Pro