Canonical Allele Identifier: CA5858844

Gene: TPP1

Linked Data

• dbSNP Id: rs770954145
• ExAC: 11:6638010 T / A
• gnomAD v2: 11-6638010-T-A
• MyVariant Identifiers: chr11:g.6638010T>A (hg19) ; chr11:g.6616779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616779T>A , CM000673.2:g.6616779T>A	GRCh38
NC_000011.9:g.6638010T>A , CM000673.1:g.6638010T>A	GRCh37
NC_000011.8:g.6594586T>A	NCBI36
NG_008653.1:g.7683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.654A>T	ENSP00000507321.1:p.Ser218=
ENST00000299427.12:c.768A>T MANE Select	ENSP00000299427.6:p.Ser256=
ENST00000436873.7:c.312+522A>T
ENST00000524788.2:n.1927A>T
ENST00000524903.2:n.2043A>T
ENST00000528807.2:n.424A>T
ENST00000530040.2:n.480-276A>T
ENST00000533371.6:c.39A>T	ENSP00000437066.1:p.Ser13=
ENST00000642892.1:c.39A>T	ENSP00000494165.1:p.Ser13=
ENST00000643439.1:c.*508A>T	ENSP00000495849.1:n.*508A>T
ENST00000643479.1:n.797A>T
ENST00000643516.1:c.396-276A>T
ENST00000644151.1:n.2207A>T
ENST00000644218.1:c.768A>T	ENSP00000493574.1:p.Ser256=
ENST00000644683.1:c.*221A>T	ENSP00000494085.1:n.*221A>T
ENST00000644810.1:c.489A>T	ENSP00000495895.1:p.Ser163=
ENST00000644831.1:n.944A>T
ENST00000644933.1:c.39A>T	ENSP00000496133.1:p.Ser13=
ENST00000645020.1:n.2058A>T
ENST00000645285.1:c.39A>T	ENSP00000495058.1:p.Ser13=
ENST00000645331.1:n.1134A>T
ENST00000645620.1:c.39A>T	ENSP00000493657.1:p.Ser13=
ENST00000646777.1:n.944A>T
ENST00000647016.1:n.1248A>T
ENST00000647152.1:c.39A>T	ENSP00000495893.1:p.Ser13=
ENST00000647209.1:c.*637A>T	ENSP00000495558.1:n.*637A>T
ENST00000647346.1:n.1788A>T
ENST00000299427.10:c.768A>T	ENSP00000299427.6:p.Ser256=
ENST00000436873.6:c.451-276A>T	ENSP00000398136.2:n.451-276A>T
ENST00000524788.1:n.468A>T
ENST00000528807.1:n.318A>T
ENST00000533371.5:c.39A>T	ENSP00000437066.1:p.Ser13=
ENST00000611494.4:c.768A>T	ENSP00000484546.1:p.Ser256=
NM_000391.3:c.768A>T	NP_000382.3:p.Ser256=
NM_000391.4:c.768A>T MANE Select	NP_000382.3:p.Ser256=