Canonical Allele Identifier: CA379473050

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615521-G-T
• MyVariant Identifiers: chr11:g.6636752G>T (hg19) ; chr11:g.6615521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615521G>T , CM000673.2:g.6615521G>T	GRCh38
NC_000011.9:g.6636752G>T , CM000673.1:g.6636752G>T	GRCh37
NC_000011.8:g.6593328G>T	NCBI36
NG_008653.1:g.8941C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1073C>A	ENSP00000507321.1:p.Pro358His
ENST00000299427.12:c.1187C>A MANE Select	ENSP00000299427.6:p.Pro396His
ENST00000436873.7:c.424C>A
ENST00000524924.2:n.307C>A
ENST00000533371.6:c.458C>A	ENSP00000437066.1:p.Pro153His
ENST00000642892.1:c.458C>A	ENSP00000494165.1:p.Pro153His
ENST00000643342.1:c.260C>A
ENST00000643439.1:c.*927C>A	ENSP00000495849.1:n.*927C>A
ENST00000643479.1:n.1373C>A
ENST00000643516.1:c.696C>A
ENST00000644218.1:c.998C>A	ENSP00000493574.1:p.Pro333His
ENST00000644683.1:c.*640C>A	ENSP00000494085.1:n.*640C>A
ENST00000644810.1:c.908C>A	ENSP00000495895.1:p.Pro303His
ENST00000644831.1:n.1363C>A
ENST00000644933.1:c.*53C>A	ENSP00000496133.1:n.*53C>A
ENST00000645285.1:c.*53C>A	ENSP00000495058.1:n.*53C>A
ENST00000645331.1:n.2392C>A
ENST00000645620.1:c.458C>A	ENSP00000493657.1:p.Pro153His
ENST00000646691.1:n.962C>A
ENST00000646777.1:n.1520C>A
ENST00000647016.1:n.1667C>A
ENST00000647152.1:c.458C>A	ENSP00000495893.1:p.Pro153His
ENST00000647209.1:c.*1056C>A	ENSP00000495558.1:n.*1056C>A
ENST00000647346.1:n.2207C>A
ENST00000299427.10:c.1187C>A	ENSP00000299427.6:p.Pro396His
ENST00000524924.1:n.142C>A
ENST00000532191.1:n.240C>A
ENST00000533371.5:c.458C>A	ENSP00000437066.1:p.Pro153His
ENST00000611494.4:c.1187C>A	ENSP00000484546.1:p.Pro396His
NM_000391.3:c.1187C>A	NP_000382.3:p.Pro396His
NM_000391.4:c.1187C>A MANE Select	NP_000382.3:p.Pro396His