Canonical Allele Identifier: CA379472857

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636674T>A (hg19) ; chr11:g.6615443T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615443T>A , CM000673.2:g.6615443T>A	GRCh38
NC_000011.9:g.6636674T>A , CM000673.1:g.6636674T>A	GRCh37
NC_000011.8:g.6593250T>A	NCBI36
NG_008653.1:g.9019A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1151A>T	ENSP00000507321.1:p.Gln384Leu
ENST00000299427.12:c.1265A>T MANE Select	ENSP00000299427.6:p.Gln422Leu
ENST00000436873.7:c.502A>T
ENST00000524611.2:n.13A>T
ENST00000524924.2:n.385A>T
ENST00000533371.6:c.536A>T	ENSP00000437066.1:p.Gln179Leu
ENST00000642892.1:c.536A>T	ENSP00000494165.1:p.Gln179Leu
ENST00000643342.1:c.338A>T
ENST00000643439.1:c.*1005A>T	ENSP00000495849.1:n.*1005A>T
ENST00000643479.1:n.1451A>T
ENST00000643516.1:c.774A>T
ENST00000644218.1:c.1076A>T	ENSP00000493574.1:p.Gln359Leu
ENST00000644683.1:c.*718A>T	ENSP00000494085.1:n.*718A>T
ENST00000644810.1:c.986A>T	ENSP00000495895.1:p.Gln329Leu
ENST00000644831.1:n.1441A>T
ENST00000644933.1:c.*131A>T	ENSP00000496133.1:n.*131A>T
ENST00000645285.1:c.*131A>T	ENSP00000495058.1:n.*131A>T
ENST00000645331.1:n.2470A>T
ENST00000645620.1:c.536A>T	ENSP00000493657.1:p.Gln179Leu
ENST00000646691.1:n.1040A>T
ENST00000646777.1:n.1598A>T
ENST00000647016.1:n.1745A>T
ENST00000647152.1:c.536A>T	ENSP00000495893.1:p.Gln179Leu
ENST00000647209.1:c.*1134A>T	ENSP00000495558.1:n.*1134A>T
ENST00000647346.1:n.2285A>T
ENST00000299427.10:c.1265A>T	ENSP00000299427.6:p.Gln422Leu
ENST00000524611.1:n.31A>T
ENST00000524924.1:n.220A>T
ENST00000532191.1:n.318A>T
ENST00000533371.5:c.536A>T	ENSP00000437066.1:p.Gln179Leu
ENST00000611494.4:c.1265A>T	ENSP00000484546.1:p.Gln422Leu
NM_000391.3:c.1265A>T	NP_000382.3:p.Gln422Leu
NM_000391.4:c.1265A>T MANE Select	NP_000382.3:p.Gln422Leu