Canonical Allele Identifier: CA379475133

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6638024C>T (hg19) ; chr11:g.6616793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616793C>T , CM000673.2:g.6616793C>T	GRCh38
NC_000011.9:g.6638024C>T , CM000673.1:g.6638024C>T	GRCh37
NC_000011.8:g.6594600C>T	NCBI36
NG_008653.1:g.7669G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.640G>A	ENSP00000507321.1:p.Ala214Thr
ENST00000299427.12:c.754G>A MANE Select	ENSP00000299427.6:p.Ala252Thr
ENST00000436873.7:c.312+508G>A
ENST00000524788.2:n.1913G>A
ENST00000524903.2:n.2029G>A
ENST00000528807.2:n.410G>A
ENST00000530040.2:n.480-290G>A
ENST00000533371.6:c.25G>A	ENSP00000437066.1:p.Ala9Thr
ENST00000642892.1:c.25G>A	ENSP00000494165.1:p.Ala9Thr
ENST00000643439.1:c.*494G>A	ENSP00000495849.1:n.*494G>A
ENST00000643479.1:n.783G>A
ENST00000643516.1:c.396-290G>A
ENST00000644151.1:n.2193G>A
ENST00000644218.1:c.754G>A	ENSP00000493574.1:p.Ala252Thr
ENST00000644683.1:c.*207G>A	ENSP00000494085.1:n.*207G>A
ENST00000644810.1:c.475G>A	ENSP00000495895.1:p.Ala159Thr
ENST00000644831.1:n.930G>A
ENST00000644933.1:c.25G>A	ENSP00000496133.1:p.Ala9Thr
ENST00000645020.1:n.2044G>A
ENST00000645285.1:c.25G>A	ENSP00000495058.1:p.Ala9Thr
ENST00000645331.1:n.1120G>A
ENST00000645620.1:c.25G>A	ENSP00000493657.1:p.Ala9Thr
ENST00000646777.1:n.930G>A
ENST00000647016.1:n.1234G>A
ENST00000647152.1:c.25G>A	ENSP00000495893.1:p.Ala9Thr
ENST00000647209.1:c.*623G>A	ENSP00000495558.1:n.*623G>A
ENST00000647346.1:n.1774G>A
ENST00000299427.10:c.754G>A	ENSP00000299427.6:p.Ala252Thr
ENST00000436873.6:c.451-290G>A	ENSP00000398136.2:n.451-290G>A
ENST00000524788.1:n.454G>A
ENST00000528807.1:n.304G>A
ENST00000533371.5:c.25G>A	ENSP00000437066.1:p.Ala9Thr
ENST00000611494.4:c.754G>A	ENSP00000484546.1:p.Ala252Thr
NM_000391.3:c.754G>A	NP_000382.3:p.Ala252Thr
NM_000391.4:c.754G>A MANE Select	NP_000382.3:p.Ala252Thr