Canonical Allele Identifier: CA5858602

Gene: TPP1

Linked Data

• ClinVar Variation Id: 847286
• ClinVar RCV Id: RCV001832467 ; RCV002553234
• dbSNP Id: rs375364589
• ExAC: 11:6635887 C / T
• gnomAD v2: 11-6635887-C-T
• gnomAD v3: 11-6614656-C-T
• gnomAD v4: 11-6614656-C-T
• MyVariant Identifiers: chr11:g.6635887C>T (hg19) ; chr11:g.6614656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614656C>T , CM000673.2:g.6614656C>T	GRCh38
NC_000011.9:g.6635887C>T , CM000673.1:g.6635887C>T	GRCh37
NC_000011.8:g.6592463C>T	NCBI36
NG_008653.1:g.9806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1468G>A	ENSP00000507321.1:p.Asp490Asn
ENST00000299427.12:c.1582G>A MANE Select	ENSP00000299427.6:p.Asp528Asn
ENST00000524611.2:n.621G>A
ENST00000524924.2:n.702G>A
ENST00000533371.6:c.853G>A	ENSP00000437066.1:p.Asp285Asn
ENST00000642892.1:c.853G>A	ENSP00000494165.1:p.Asp285Asn
ENST00000643342.1:c.655G>A
ENST00000643439.1:c.*1322G>A	ENSP00000495849.1:n.*1322G>A
ENST00000643479.1:n.1768G>A
ENST00000643516.1:c.1091G>A
ENST00000644218.1:c.1393G>A	ENSP00000493574.1:p.Asp465Asn
ENST00000644683.1:c.*1035G>A	ENSP00000494085.1:n.*1035G>A
ENST00000644810.1:c.1303G>A	ENSP00000495895.1:p.Asp435Asn
ENST00000644831.1:n.1758G>A
ENST00000644933.1:c.*448G>A	ENSP00000496133.1:n.*448G>A
ENST00000645285.1:c.*448G>A	ENSP00000495058.1:n.*448G>A
ENST00000645331.1:n.2787G>A
ENST00000645620.1:c.853G>A	ENSP00000493657.1:p.Asp285Asn
ENST00000646691.1:n.1469G>A
ENST00000646777.1:n.1915G>A
ENST00000647016.1:n.2062G>A
ENST00000647152.1:c.853G>A	ENSP00000495893.1:p.Asp285Asn
ENST00000647209.1:c.*1451G>A	ENSP00000495558.1:n.*1451G>A
ENST00000647346.1:n.2602G>A
ENST00000299427.10:c.1582G>A	ENSP00000299427.6:p.Asp528Asn
ENST00000524611.1:n.460G>A
ENST00000533371.5:c.853G>A	ENSP00000437066.1:p.Asp285Asn
ENST00000611494.4:c.1582G>A	ENSP00000484546.1:p.Asp528Asn
NM_000391.3:c.1582G>A	NP_000382.3:p.Asp528Asn
NM_000391.4:c.1582G>A MANE Select	NP_000382.3:p.Asp528Asn