Canonical Allele Identifier: CA379475880

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638598T>A (hg19) ; chr11:g.6617367T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617367T>A , CM000673.2:g.6617367T>A	GRCh38
NC_000011.9:g.6638598T>A , CM000673.1:g.6638598T>A	GRCh37
NC_000011.8:g.6595174T>A	NCBI36
NG_008653.1:g.7095A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.328A>T	ENSP00000507321.1:p.Thr110Ser
ENST00000299427.12:c.442A>T MANE Select	ENSP00000299427.6:p.Thr148Ser
ENST00000428886.7:n.530A>T
ENST00000436873.7:c.246A>T
ENST00000524788.2:n.1454A>T
ENST00000524903.2:n.1570A>T
ENST00000528571.6:c.*182A>T	ENSP00000434647.1:n.*182A>T
ENST00000528807.2:n.98A>T
ENST00000530040.2:n.471A>T
ENST00000533371.6:c.-288A>T	ENSP00000437066.1:n.-288A>T
ENST00000534644.6:n.443A>T
ENST00000642892.1:c.-235A>T	ENSP00000494165.1:n.-235A>T
ENST00000643439.1:c.*182A>T	ENSP00000495849.1:n.*182A>T
ENST00000643479.1:n.471A>T
ENST00000643516.1:c.329A>T
ENST00000644151.1:n.1734A>T
ENST00000644218.1:c.442A>T	ENSP00000493574.1:p.Thr148Ser
ENST00000644683.1:c.442A>T	ENSP00000494085.1:p.Thr148Ser
ENST00000644810.1:c.230-214A>T	ENSP00000495895.1:n.230-214A>T
ENST00000644831.1:n.471A>T
ENST00000644933.1:c.-288A>T	ENSP00000496133.1:n.-288A>T
ENST00000645020.1:n.1470A>T
ENST00000645285.1:c.-288A>T	ENSP00000495058.1:n.-288A>T
ENST00000645331.1:n.661A>T
ENST00000645620.1:c.-230A>T	ENSP00000493657.1:n.-230A>T
ENST00000646777.1:n.471A>T
ENST00000647016.1:n.775A>T
ENST00000647152.1:c.-288A>T	ENSP00000495893.1:n.-288A>T
ENST00000647209.1:c.*311A>T	ENSP00000495558.1:n.*311A>T
ENST00000647346.1:n.1462A>T
ENST00000299427.10:c.442A>T	ENSP00000299427.6:p.Thr148Ser
ENST00000428886.6:n.464A>T
ENST00000436873.6:c.442A>T	ENSP00000398136.2:p.Thr148Ser
ENST00000528571.5:c.*182A>T	ENSP00000434647.1:n.*182A>T
ENST00000533371.5:c.-288A>T	ENSP00000437066.1:n.-288A>T
ENST00000534644.5:n.427A>T
ENST00000611494.4:c.442A>T	ENSP00000484546.1:p.Thr148Ser
NM_000391.3:c.442A>T	NP_000382.3:p.Thr148Ser
NM_000391.4:c.442A>T MANE Select	NP_000382.3:p.Thr148Ser