Canonical Allele Identifier: CA379474218

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616395-A-G
• MyVariant Identifiers: chr11:g.6637626A>G (hg19) ; chr11:g.6616395A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616395A>G , CM000673.2:g.6616395A>G	GRCh38
NC_000011.9:g.6637626A>G , CM000673.1:g.6637626A>G	GRCh37
NC_000011.8:g.6594202A>G	NCBI36
NG_008653.1:g.8067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.881T>C	ENSP00000507321.1:p.Leu294Pro
ENST00000299427.12:c.995T>C MANE Select	ENSP00000299427.6:p.Leu332Pro
ENST00000436873.7:c.313-321T>C
ENST00000533371.6:c.266T>C	ENSP00000437066.1:p.Leu89Pro
ENST00000642892.1:c.266T>C	ENSP00000494165.1:p.Leu89Pro
ENST00000643342.1:c.85T>C
ENST00000643439.1:c.*735T>C	ENSP00000495849.1:n.*735T>C
ENST00000643479.1:n.1181T>C
ENST00000643516.1:c.504T>C
ENST00000644218.1:c.886+266T>C	ENSP00000493574.1:n.886+266T>C
ENST00000644683.1:c.*448T>C	ENSP00000494085.1:n.*448T>C
ENST00000644810.1:c.716T>C	ENSP00000495895.1:p.Leu239Pro
ENST00000644831.1:n.1171T>C
ENST00000644933.1:c.266T>C	ENSP00000496133.1:p.Leu89Pro
ENST00000645285.1:c.157+266T>C	ENSP00000495058.1:n.157+266T>C
ENST00000645331.1:n.1518T>C
ENST00000645620.1:c.266T>C	ENSP00000493657.1:p.Leu89Pro
ENST00000646691.1:n.88T>C
ENST00000646777.1:n.1328T>C
ENST00000647016.1:n.1475T>C
ENST00000647152.1:c.266T>C	ENSP00000495893.1:p.Leu89Pro
ENST00000647209.1:c.*864T>C	ENSP00000495558.1:n.*864T>C
ENST00000647346.1:n.2015T>C
ENST00000299427.10:c.995T>C	ENSP00000299427.6:p.Leu332Pro
ENST00000533371.5:c.266T>C	ENSP00000437066.1:p.Leu89Pro
ENST00000611494.4:c.995T>C	ENSP00000484546.1:p.Leu332Pro
NM_000391.3:c.995T>C	NP_000382.3:p.Leu332Pro
NM_000391.4:c.995T>C MANE Select	NP_000382.3:p.Leu332Pro