Canonical Allele Identifier: CA379474975

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637942T>A (hg19) ; chr11:g.6616711T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616711T>A , CM000673.2:g.6616711T>A	GRCh38
NC_000011.9:g.6637942T>A , CM000673.1:g.6637942T>A	GRCh37
NC_000011.8:g.6594518T>A	NCBI36
NG_008653.1:g.7751A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.722A>T	ENSP00000507321.1:p.Tyr241Phe
ENST00000299427.12:c.836A>T MANE Select	ENSP00000299427.6:p.Tyr279Phe
ENST00000436873.7:c.312+590A>T
ENST00000524788.2:n.1995A>T
ENST00000524903.2:n.2111A>T
ENST00000528807.2:n.492A>T
ENST00000530040.2:n.480-208A>T
ENST00000533371.6:c.107A>T	ENSP00000437066.1:p.Tyr36Phe
ENST00000642892.1:c.107A>T	ENSP00000494165.1:p.Tyr36Phe
ENST00000643439.1:c.*576A>T	ENSP00000495849.1:n.*576A>T
ENST00000643479.1:n.865A>T
ENST00000643516.1:c.396-208A>T
ENST00000644151.1:n.2275A>T
ENST00000644218.1:c.836A>T	ENSP00000493574.1:p.Tyr279Phe
ENST00000644683.1:c.*289A>T	ENSP00000494085.1:n.*289A>T
ENST00000644810.1:c.557A>T	ENSP00000495895.1:p.Tyr186Phe
ENST00000644831.1:n.1012A>T
ENST00000644933.1:c.107A>T	ENSP00000496133.1:p.Tyr36Phe
ENST00000645020.1:n.2126A>T
ENST00000645285.1:c.107A>T	ENSP00000495058.1:p.Tyr36Phe
ENST00000645331.1:n.1202A>T
ENST00000645620.1:c.107A>T	ENSP00000493657.1:p.Tyr36Phe
ENST00000646777.1:n.1012A>T
ENST00000647016.1:n.1316A>T
ENST00000647152.1:c.107A>T	ENSP00000495893.1:p.Tyr36Phe
ENST00000647209.1:c.*705A>T	ENSP00000495558.1:n.*705A>T
ENST00000647346.1:n.1856A>T
ENST00000299427.10:c.836A>T	ENSP00000299427.6:p.Tyr279Phe
ENST00000436873.6:c.451-208A>T	ENSP00000398136.2:n.451-208A>T
ENST00000524788.1:n.536A>T
ENST00000528807.1:n.386A>T
ENST00000533371.5:c.107A>T	ENSP00000437066.1:p.Tyr36Phe
ENST00000611494.4:c.836A>T	ENSP00000484546.1:p.Tyr279Phe
NM_000391.3:c.836A>T	NP_000382.3:p.Tyr279Phe
NM_000391.4:c.836A>T MANE Select	NP_000382.3:p.Tyr279Phe