Canonical Allele Identifier: CA379472899

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636695A>T (hg19) ; chr11:g.6615464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615464A>T , CM000673.2:g.6615464A>T	GRCh38
NC_000011.9:g.6636695A>T , CM000673.1:g.6636695A>T	GRCh37
NC_000011.8:g.6593271A>T	NCBI36
NG_008653.1:g.8998T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1130T>A	ENSP00000507321.1:p.Val377Glu
ENST00000299427.12:c.1244T>A MANE Select	ENSP00000299427.6:p.Val415Glu
ENST00000436873.7:c.481T>A
ENST00000524924.2:n.364T>A
ENST00000533371.6:c.515T>A	ENSP00000437066.1:p.Val172Glu
ENST00000642892.1:c.515T>A	ENSP00000494165.1:p.Val172Glu
ENST00000643342.1:c.317T>A
ENST00000643439.1:c.*984T>A	ENSP00000495849.1:n.*984T>A
ENST00000643479.1:n.1430T>A
ENST00000643516.1:c.753T>A
ENST00000644218.1:c.1055T>A	ENSP00000493574.1:p.Val352Glu
ENST00000644683.1:c.*697T>A	ENSP00000494085.1:n.*697T>A
ENST00000644810.1:c.965T>A	ENSP00000495895.1:p.Val322Glu
ENST00000644831.1:n.1420T>A
ENST00000644933.1:c.*110T>A	ENSP00000496133.1:n.*110T>A
ENST00000645285.1:c.*110T>A	ENSP00000495058.1:n.*110T>A
ENST00000645331.1:n.2449T>A
ENST00000645620.1:c.515T>A	ENSP00000493657.1:p.Val172Glu
ENST00000646691.1:n.1019T>A
ENST00000646777.1:n.1577T>A
ENST00000647016.1:n.1724T>A
ENST00000647152.1:c.515T>A	ENSP00000495893.1:p.Val172Glu
ENST00000647209.1:c.*1113T>A	ENSP00000495558.1:n.*1113T>A
ENST00000647346.1:n.2264T>A
ENST00000299427.10:c.1244T>A	ENSP00000299427.6:p.Val415Glu
ENST00000524611.1:n.10T>A
ENST00000524924.1:n.199T>A
ENST00000532191.1:n.297T>A
ENST00000533371.5:c.515T>A	ENSP00000437066.1:p.Val172Glu
ENST00000611494.4:c.1244T>A	ENSP00000484546.1:p.Val415Glu
NM_000391.3:c.1244T>A	NP_000382.3:p.Val415Glu
NM_000391.4:c.1244T>A MANE Select	NP_000382.3:p.Val415Glu