Canonical Allele Identifier: CA379475156

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638035C>A (hg19) ; chr11:g.6616804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616804C>A , CM000673.2:g.6616804C>A	GRCh38
NC_000011.9:g.6638035C>A , CM000673.1:g.6638035C>A	GRCh37
NC_000011.8:g.6594611C>A	NCBI36
NG_008653.1:g.7658G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.629G>T	ENSP00000507321.1:p.Gly210Val
ENST00000299427.12:c.743G>T MANE Select	ENSP00000299427.6:p.Gly248Val
ENST00000436873.7:c.312+497G>T
ENST00000524788.2:n.1902G>T
ENST00000524903.2:n.2018G>T
ENST00000528807.2:n.399G>T
ENST00000530040.2:n.480-301G>T
ENST00000533371.6:c.14G>T	ENSP00000437066.1:p.Gly5Val
ENST00000642892.1:c.14G>T	ENSP00000494165.1:p.Gly5Val
ENST00000643439.1:c.*483G>T	ENSP00000495849.1:n.*483G>T
ENST00000643479.1:n.772G>T
ENST00000643516.1:c.396-301G>T
ENST00000644151.1:n.2182G>T
ENST00000644218.1:c.743G>T	ENSP00000493574.1:p.Gly248Val
ENST00000644683.1:c.*196G>T	ENSP00000494085.1:n.*196G>T
ENST00000644810.1:c.464G>T	ENSP00000495895.1:p.Gly155Val
ENST00000644831.1:n.919G>T
ENST00000644933.1:c.14G>T	ENSP00000496133.1:p.Gly5Val
ENST00000645020.1:n.2033G>T
ENST00000645285.1:c.14G>T	ENSP00000495058.1:p.Gly5Val
ENST00000645331.1:n.1109G>T
ENST00000645620.1:c.14G>T	ENSP00000493657.1:p.Gly5Val
ENST00000646777.1:n.919G>T
ENST00000647016.1:n.1223G>T
ENST00000647152.1:c.14G>T	ENSP00000495893.1:p.Gly5Val
ENST00000647209.1:c.*612G>T	ENSP00000495558.1:n.*612G>T
ENST00000647346.1:n.1763G>T
ENST00000299427.10:c.743G>T	ENSP00000299427.6:p.Gly248Val
ENST00000436873.6:c.451-301G>T	ENSP00000398136.2:n.451-301G>T
ENST00000524788.1:n.443G>T
ENST00000528807.1:n.293G>T
ENST00000533371.5:c.14G>T	ENSP00000437066.1:p.Gly5Val
ENST00000611494.4:c.743G>T	ENSP00000484546.1:p.Gly248Val
NM_000391.3:c.743G>T	NP_000382.3:p.Gly248Val
NM_000391.4:c.743G>T MANE Select	NP_000382.3:p.Gly248Val