Canonical Allele Identifier: CA379474342

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616422-A-C
• MyVariant Identifiers: chr11:g.6637653A>C (hg19) ; chr11:g.6616422A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616422A>C , CM000673.2:g.6616422A>C	GRCh38
NC_000011.9:g.6637653A>C , CM000673.1:g.6637653A>C	GRCh37
NC_000011.8:g.6594229A>C	NCBI36
NG_008653.1:g.8040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.854T>G	ENSP00000507321.1:p.Val285Gly
ENST00000299427.12:c.968T>G MANE Select	ENSP00000299427.6:p.Val323Gly
ENST00000436873.7:c.313-348T>G
ENST00000533371.6:c.239T>G	ENSP00000437066.1:p.Val80Gly
ENST00000642892.1:c.239T>G	ENSP00000494165.1:p.Val80Gly
ENST00000643342.1:c.58T>G
ENST00000643439.1:c.*708T>G	ENSP00000495849.1:n.*708T>G
ENST00000643479.1:n.1154T>G
ENST00000643516.1:c.477T>G
ENST00000644218.1:c.886+239T>G	ENSP00000493574.1:n.886+239T>G
ENST00000644683.1:c.*421T>G	ENSP00000494085.1:n.*421T>G
ENST00000644810.1:c.689T>G	ENSP00000495895.1:p.Val230Gly
ENST00000644831.1:n.1144T>G
ENST00000644933.1:c.239T>G	ENSP00000496133.1:p.Val80Gly
ENST00000645285.1:c.157+239T>G	ENSP00000495058.1:n.157+239T>G
ENST00000645331.1:n.1491T>G
ENST00000645620.1:c.239T>G	ENSP00000493657.1:p.Val80Gly
ENST00000646691.1:n.61T>G
ENST00000646777.1:n.1301T>G
ENST00000647016.1:n.1448T>G
ENST00000647152.1:c.239T>G	ENSP00000495893.1:p.Val80Gly
ENST00000647209.1:c.*837T>G	ENSP00000495558.1:n.*837T>G
ENST00000647346.1:n.1988T>G
ENST00000299427.10:c.968T>G	ENSP00000299427.6:p.Val323Gly
ENST00000533371.5:c.239T>G	ENSP00000437066.1:p.Val80Gly
ENST00000611494.4:c.968T>G	ENSP00000484546.1:p.Val323Gly
NM_000391.3:c.968T>G	NP_000382.3:p.Val323Gly
NM_000391.4:c.968T>G MANE Select	NP_000382.3:p.Val323Gly