Canonical Allele Identifier: CA379472928

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615477-C-A
• MyVariant Identifiers: chr11:g.6636708C>A (hg19) ; chr11:g.6615477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615477C>A , CM000673.2:g.6615477C>A	GRCh38
NC_000011.9:g.6636708C>A , CM000673.1:g.6636708C>A	GRCh37
NC_000011.8:g.6593284C>A	NCBI36
NG_008653.1:g.8985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1117G>T	ENSP00000507321.1:p.Gly373Cys
ENST00000299427.12:c.1231G>T MANE Select	ENSP00000299427.6:p.Gly411Cys
ENST00000436873.7:c.468G>T
ENST00000524924.2:n.351G>T
ENST00000533371.6:c.502G>T	ENSP00000437066.1:p.Gly168Cys
ENST00000642892.1:c.502G>T	ENSP00000494165.1:p.Gly168Cys
ENST00000643342.1:c.304G>T
ENST00000643439.1:c.*971G>T	ENSP00000495849.1:n.*971G>T
ENST00000643479.1:n.1417G>T
ENST00000643516.1:c.740G>T
ENST00000644218.1:c.1042G>T	ENSP00000493574.1:p.Gly348Cys
ENST00000644683.1:c.*684G>T	ENSP00000494085.1:n.*684G>T
ENST00000644810.1:c.952G>T	ENSP00000495895.1:p.Gly318Cys
ENST00000644831.1:n.1407G>T
ENST00000644933.1:c.*97G>T	ENSP00000496133.1:n.*97G>T
ENST00000645285.1:c.*97G>T	ENSP00000495058.1:n.*97G>T
ENST00000645331.1:n.2436G>T
ENST00000645620.1:c.502G>T	ENSP00000493657.1:p.Gly168Cys
ENST00000646691.1:n.1006G>T
ENST00000646777.1:n.1564G>T
ENST00000647016.1:n.1711G>T
ENST00000647152.1:c.502G>T	ENSP00000495893.1:p.Gly168Cys
ENST00000647209.1:c.*1100G>T	ENSP00000495558.1:n.*1100G>T
ENST00000647346.1:n.2251G>T
ENST00000299427.10:c.1231G>T	ENSP00000299427.6:p.Gly411Cys
ENST00000524924.1:n.186G>T
ENST00000532191.1:n.284G>T
ENST00000533371.5:c.502G>T	ENSP00000437066.1:p.Gly168Cys
ENST00000611494.4:c.1231G>T	ENSP00000484546.1:p.Gly411Cys
NM_000391.3:c.1231G>T	NP_000382.3:p.Gly411Cys
NM_000391.4:c.1231G>T MANE Select	NP_000382.3:p.Gly411Cys