Canonical Allele Identifier: CA379474374

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637659T>A (hg19) ; chr11:g.6616428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616428T>A , CM000673.2:g.6616428T>A	GRCh38
NC_000011.9:g.6637659T>A , CM000673.1:g.6637659T>A	GRCh37
NC_000011.8:g.6594235T>A	NCBI36
NG_008653.1:g.8034A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.848A>T	ENSP00000507321.1:p.His283Leu
ENST00000299427.12:c.962A>T MANE Select	ENSP00000299427.6:p.His321Leu
ENST00000436873.7:c.313-354A>T
ENST00000530040.2:n.555A>T
ENST00000533371.6:c.233A>T	ENSP00000437066.1:p.His78Leu
ENST00000642892.1:c.233A>T	ENSP00000494165.1:p.His78Leu
ENST00000643342.1:c.52A>T
ENST00000643439.1:c.*702A>T	ENSP00000495849.1:n.*702A>T
ENST00000643479.1:n.1148A>T
ENST00000643516.1:c.471A>T
ENST00000644218.1:c.886+233A>T	ENSP00000493574.1:n.886+233A>T
ENST00000644683.1:c.*415A>T	ENSP00000494085.1:n.*415A>T
ENST00000644810.1:c.683A>T	ENSP00000495895.1:p.His228Leu
ENST00000644831.1:n.1138A>T
ENST00000644933.1:c.233A>T	ENSP00000496133.1:p.His78Leu
ENST00000645285.1:c.157+233A>T	ENSP00000495058.1:n.157+233A>T
ENST00000645331.1:n.1485A>T
ENST00000645620.1:c.233A>T	ENSP00000493657.1:p.His78Leu
ENST00000646691.1:n.55A>T
ENST00000646777.1:n.1295A>T
ENST00000647016.1:n.1442A>T
ENST00000647152.1:c.233A>T	ENSP00000495893.1:p.His78Leu
ENST00000647209.1:c.*831A>T	ENSP00000495558.1:n.*831A>T
ENST00000647346.1:n.1982A>T
ENST00000299427.10:c.962A>T	ENSP00000299427.6:p.His321Leu
ENST00000436873.6:c.526A>T	ENSP00000398136.2:p.Ile176Leu
ENST00000533371.5:c.233A>T	ENSP00000437066.1:p.His78Leu
ENST00000611494.4:c.962A>T	ENSP00000484546.1:p.His321Leu
NM_000391.3:c.962A>T	NP_000382.3:p.His321Leu
NM_000391.4:c.962A>T MANE Select	NP_000382.3:p.His321Leu