Canonical Allele Identifier: CA379472604

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636448C>A (hg19) ; chr11:g.6615217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615217C>A , CM000673.2:g.6615217C>A	GRCh38
NC_000011.9:g.6636448C>A , CM000673.1:g.6636448C>A	GRCh37
NC_000011.8:g.6593024C>A	NCBI36
NG_008653.1:g.9245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1265G>T	ENSP00000507321.1:p.Trp422Leu
ENST00000299427.12:c.1379G>T MANE Select	ENSP00000299427.6:p.Trp460Leu
ENST00000524611.2:n.239G>T
ENST00000524924.2:n.499G>T
ENST00000533371.6:c.650G>T	ENSP00000437066.1:p.Trp217Leu
ENST00000642892.1:c.650G>T	ENSP00000494165.1:p.Trp217Leu
ENST00000643342.1:c.452G>T
ENST00000643439.1:c.*1119G>T	ENSP00000495849.1:n.*1119G>T
ENST00000643479.1:n.1565G>T
ENST00000643516.1:c.888G>T
ENST00000644218.1:c.1190G>T	ENSP00000493574.1:p.Trp397Leu
ENST00000644683.1:c.*832G>T	ENSP00000494085.1:n.*832G>T
ENST00000644810.1:c.1100G>T	ENSP00000495895.1:p.Trp367Leu
ENST00000644831.1:n.1555G>T
ENST00000644933.1:c.*245G>T	ENSP00000496133.1:n.*245G>T
ENST00000645285.1:c.*245G>T	ENSP00000495058.1:n.*245G>T
ENST00000645331.1:n.2584G>T
ENST00000645620.1:c.650G>T	ENSP00000493657.1:p.Trp217Leu
ENST00000646691.1:n.1266G>T
ENST00000646777.1:n.1712G>T
ENST00000647016.1:n.1859G>T
ENST00000647152.1:c.650G>T	ENSP00000495893.1:p.Trp217Leu
ENST00000647209.1:c.*1248G>T	ENSP00000495558.1:n.*1248G>T
ENST00000647346.1:n.2399G>T
ENST00000299427.10:c.1379G>T	ENSP00000299427.6:p.Trp460Leu
ENST00000524611.1:n.257G>T
ENST00000532191.1:n.432G>T
ENST00000533371.5:c.650G>T	ENSP00000437066.1:p.Trp217Leu
ENST00000611494.4:c.1379G>T	ENSP00000484546.1:p.Trp460Leu
NM_000391.3:c.1379G>T	NP_000382.3:p.Trp460Leu
NM_000391.4:c.1379G>T MANE Select	NP_000382.3:p.Trp460Leu