Canonical Allele Identifier: CA472922655

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637911G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616680G>A , CM000673.2:g.6616680G>A	GRCh38
NC_000011.9:g.6637911G>A , CM000673.1:g.6637911G>A	GRCh37
NC_000011.8:g.6594487G>A	NCBI36
NG_008653.1:g.7782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.753C>T	ENSP00000507321.1:p.Thr251=
ENST00000299427.12:c.867C>T MANE Select	ENSP00000299427.6:p.Thr289=
ENST00000436873.7:c.313-606C>T
ENST00000524788.2:n.2026C>T
ENST00000524903.2:n.2142C>T
ENST00000528807.2:n.523C>T
ENST00000530040.2:n.480-177C>T
ENST00000533371.6:c.138C>T	ENSP00000437066.1:p.Thr46=
ENST00000642892.1:c.138C>T	ENSP00000494165.1:p.Thr46=
ENST00000643439.1:c.*607C>T	ENSP00000495849.1:n.*607C>T
ENST00000643479.1:n.896C>T
ENST00000643516.1:c.396-177C>T
ENST00000644151.1:n.2306C>T
ENST00000644218.1:c.867C>T	ENSP00000493574.1:p.Thr289=
ENST00000644683.1:c.*320C>T	ENSP00000494085.1:n.*320C>T
ENST00000644810.1:c.588C>T	ENSP00000495895.1:p.Thr196=
ENST00000644831.1:n.1043C>T
ENST00000644933.1:c.138C>T	ENSP00000496133.1:p.Thr46=
ENST00000645020.1:n.2157C>T
ENST00000645285.1:c.138C>T	ENSP00000495058.1:p.Thr46=
ENST00000645331.1:n.1233C>T
ENST00000645620.1:c.138C>T	ENSP00000493657.1:p.Thr46=
ENST00000646777.1:n.1043C>T
ENST00000647016.1:n.1347C>T
ENST00000647152.1:c.138C>T	ENSP00000495893.1:p.Thr46=
ENST00000647209.1:c.*736C>T	ENSP00000495558.1:n.*736C>T
ENST00000647346.1:n.1887C>T
ENST00000299427.10:c.867C>T	ENSP00000299427.6:p.Thr289=
ENST00000436873.6:c.451-177C>T	ENSP00000398136.2:n.451-177C>T
ENST00000528807.1:n.417C>T
ENST00000533371.5:c.138C>T	ENSP00000437066.1:p.Thr46=
ENST00000611494.4:c.867C>T	ENSP00000484546.1:p.Thr289=
NM_000391.3:c.867C>T	NP_000382.3:p.Thr289=
NM_000391.4:c.867C>T MANE Select	NP_000382.3:p.Thr289=