Canonical Allele Identifier: CA5858785

Gene: TPP1

Linked Data

• ClinVar Variation Id: 382690
• ClinVar RCV Id: RCV000437106 ; RCV001375972 ; RCV002313067
• dbSNP Id: rs145966505
• ExAC: 11:6637563 G / T
• gnomAD v2: 11-6637563-G-T
• gnomAD v3: 11-6616332-G-T
• gnomAD v4: 11-6616332-G-T
• MyVariant Identifiers: chr11:g.6637563G>T (hg19) ; chr11:g.6616332G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616332G>T , CM000673.2:g.6616332G>T	GRCh38
NC_000011.9:g.6637563G>T , CM000673.1:g.6637563G>T	GRCh37
NC_000011.8:g.6594139G>T	NCBI36
NG_008653.1:g.8130C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.944C>A	ENSP00000507321.1:p.Thr315Asn
ENST00000299427.12:c.1058C>A MANE Select	ENSP00000299427.6:p.Thr353Asn
ENST00000436873.7:c.313-258C>A
ENST00000533371.6:c.329C>A	ENSP00000437066.1:p.Thr110Asn
ENST00000642892.1:c.329C>A	ENSP00000494165.1:p.Thr110Asn
ENST00000643342.1:c.148C>A
ENST00000643439.1:c.*798C>A	ENSP00000495849.1:n.*798C>A
ENST00000643479.1:n.1244C>A
ENST00000643516.1:c.567C>A
ENST00000644218.1:c.887-258C>A	ENSP00000493574.1:n.887-258C>A
ENST00000644683.1:c.*511C>A	ENSP00000494085.1:n.*511C>A
ENST00000644810.1:c.779C>A	ENSP00000495895.1:p.Thr260Asn
ENST00000644831.1:n.1234C>A
ENST00000644933.1:c.329C>A	ENSP00000496133.1:p.Thr110Asn
ENST00000645285.1:c.158-258C>A	ENSP00000495058.1:n.158-258C>A
ENST00000645331.1:n.1581C>A
ENST00000645620.1:c.329C>A	ENSP00000493657.1:p.Thr110Asn
ENST00000646691.1:n.151C>A
ENST00000646777.1:n.1391C>A
ENST00000647016.1:n.1538C>A
ENST00000647152.1:c.329C>A	ENSP00000495893.1:p.Thr110Asn
ENST00000647209.1:c.*927C>A	ENSP00000495558.1:n.*927C>A
ENST00000647346.1:n.2078C>A
ENST00000299427.10:c.1058C>A	ENSP00000299427.6:p.Thr353Asn
ENST00000533371.5:c.329C>A	ENSP00000437066.1:p.Thr110Asn
ENST00000611494.4:c.1058C>A	ENSP00000484546.1:p.Thr353Asn
NM_000391.3:c.1058C>A	NP_000382.3:p.Thr353Asn
NM_000391.4:c.1058C>A MANE Select	NP_000382.3:p.Thr353Asn