Canonical Allele Identifier: CA379474376

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637660G>A (hg19) ; chr11:g.6616429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616429G>A , CM000673.2:g.6616429G>A	GRCh38
NC_000011.9:g.6637660G>A , CM000673.1:g.6637660G>A	GRCh37
NC_000011.8:g.6594236G>A	NCBI36
NG_008653.1:g.8033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.847C>T	ENSP00000507321.1:p.His283Tyr
ENST00000299427.12:c.961C>T MANE Select	ENSP00000299427.6:p.His321Tyr
ENST00000436873.7:c.313-355C>T
ENST00000530040.2:n.554C>T
ENST00000533371.6:c.232C>T	ENSP00000437066.1:p.His78Tyr
ENST00000642892.1:c.232C>T	ENSP00000494165.1:p.His78Tyr
ENST00000643342.1:c.51C>T
ENST00000643439.1:c.*701C>T	ENSP00000495849.1:n.*701C>T
ENST00000643479.1:n.1147C>T
ENST00000643516.1:c.470C>T
ENST00000644218.1:c.886+232C>T	ENSP00000493574.1:n.886+232C>T
ENST00000644683.1:c.*414C>T	ENSP00000494085.1:n.*414C>T
ENST00000644810.1:c.682C>T	ENSP00000495895.1:p.His228Tyr
ENST00000644831.1:n.1137C>T
ENST00000644933.1:c.232C>T	ENSP00000496133.1:p.His78Tyr
ENST00000645285.1:c.157+232C>T	ENSP00000495058.1:n.157+232C>T
ENST00000645331.1:n.1484C>T
ENST00000645620.1:c.232C>T	ENSP00000493657.1:p.His78Tyr
ENST00000646691.1:n.54C>T
ENST00000646777.1:n.1294C>T
ENST00000647016.1:n.1441C>T
ENST00000647152.1:c.232C>T	ENSP00000495893.1:p.His78Tyr
ENST00000647209.1:c.*830C>T	ENSP00000495558.1:n.*830C>T
ENST00000647346.1:n.1981C>T
ENST00000299427.10:c.961C>T	ENSP00000299427.6:p.His321Tyr
ENST00000436873.6:c.525C>T	ENSP00000398136.2:p.Cys175=
ENST00000533371.5:c.232C>T	ENSP00000437066.1:p.His78Tyr
ENST00000611494.4:c.961C>T	ENSP00000484546.1:p.His321Tyr
NM_000391.3:c.961C>T	NP_000382.3:p.His321Tyr
NM_000391.4:c.961C>T MANE Select	NP_000382.3:p.His321Tyr