Canonical Allele Identifier: CA217322888

Gene: TPP1

Linked Data

• dbSNP Id: rs201561710
• MyVariant Identifiers: chr11:g.6637915G>T (hg19) ; chr11:g.6616684G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616684G>T , CM000673.2:g.6616684G>T	GRCh38
NC_000011.9:g.6637915G>T , CM000673.1:g.6637915G>T	GRCh37
NC_000011.8:g.6594491G>T	NCBI36
NG_008653.1:g.7778C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.749C>A	ENSP00000507321.1:p.Ser250Tyr
ENST00000299427.12:c.863C>A MANE Select	ENSP00000299427.6:p.Ser288Tyr
ENST00000436873.7:c.313-610C>A
ENST00000524788.2:n.2022C>A
ENST00000524903.2:n.2138C>A
ENST00000528807.2:n.519C>A
ENST00000530040.2:n.480-181C>A
ENST00000533371.6:c.134C>A	ENSP00000437066.1:p.Ser45Tyr
ENST00000642892.1:c.134C>A	ENSP00000494165.1:p.Ser45Tyr
ENST00000643439.1:c.*603C>A	ENSP00000495849.1:n.*603C>A
ENST00000643479.1:n.892C>A
ENST00000643516.1:c.396-181C>A
ENST00000644151.1:n.2302C>A
ENST00000644218.1:c.863C>A	ENSP00000493574.1:p.Ser288Tyr
ENST00000644683.1:c.*316C>A	ENSP00000494085.1:n.*316C>A
ENST00000644810.1:c.584C>A	ENSP00000495895.1:p.Ser195Tyr
ENST00000644831.1:n.1039C>A
ENST00000644933.1:c.134C>A	ENSP00000496133.1:p.Ser45Tyr
ENST00000645020.1:n.2153C>A
ENST00000645285.1:c.134C>A	ENSP00000495058.1:p.Ser45Tyr
ENST00000645331.1:n.1229C>A
ENST00000645620.1:c.134C>A	ENSP00000493657.1:p.Ser45Tyr
ENST00000646777.1:n.1039C>A
ENST00000647016.1:n.1343C>A
ENST00000647152.1:c.134C>A	ENSP00000495893.1:p.Ser45Tyr
ENST00000647209.1:c.*732C>A	ENSP00000495558.1:n.*732C>A
ENST00000647346.1:n.1883C>A
ENST00000299427.10:c.863C>A	ENSP00000299427.6:p.Ser288Tyr
ENST00000436873.6:c.451-181C>A	ENSP00000398136.2:n.451-181C>A
ENST00000528807.1:n.413C>A
ENST00000533371.5:c.134C>A	ENSP00000437066.1:p.Ser45Tyr
ENST00000611494.4:c.863C>A	ENSP00000484546.1:p.Ser288Tyr
NM_000391.3:c.863C>A	NP_000382.3:p.Ser288Tyr
NM_000391.4:c.863C>A MANE Select	NP_000382.3:p.Ser288Tyr