Canonical Allele Identifier: CA379473210

Gene: TPP1

Linked Data

• ClinVar Variation Id: 429925
• ClinVar RCV Id: RCV000494500 ; RCV001829413 ; RCV003403142
• dbSNP Id: rs1131691676
• MyVariant Identifiers: chr11:g.6636794C>T (hg19) ; chr11:g.6615563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615563C>T , CM000673.2:g.6615563C>T	GRCh38
NC_000011.9:g.6636794C>T , CM000673.1:g.6636794C>T	GRCh37
NC_000011.8:g.6593370C>T	NCBI36
NG_008653.1:g.8899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1032-1G>A	ENSP00000507321.1:n.1032-1G>A
ENST00000299427.12:c.1146-1G>A MANE Select	ENSP00000299427.6:n.1146-1G>A
ENST00000436873.7:c.383-1G>A
ENST00000524924.2:n.266-1G>A
ENST00000533371.6:c.417-1G>A	ENSP00000437066.1:n.417-1G>A
ENST00000642892.1:c.417-1G>A	ENSP00000494165.1:n.417-1G>A
ENST00000643342.1:c.236-18G>A
ENST00000643439.1:c.*886-1G>A	ENSP00000495849.1:n.*886-1G>A
ENST00000643479.1:n.1332-1G>A
ENST00000643516.1:c.655-1G>A
ENST00000644218.1:c.957-1G>A	ENSP00000493574.1:n.957-1G>A
ENST00000644683.1:c.*599-1G>A	ENSP00000494085.1:n.*599-1G>A
ENST00000644810.1:c.867-1G>A	ENSP00000495895.1:n.867-1G>A
ENST00000644831.1:n.1322-1G>A
ENST00000644933.1:c.*12-1G>A	ENSP00000496133.1:n.*12-1G>A
ENST00000645285.1:c.*12-1G>A	ENSP00000495058.1:n.*12-1G>A
ENST00000645331.1:n.2350G>A
ENST00000645620.1:c.417-1G>A	ENSP00000493657.1:n.417-1G>A
ENST00000646691.1:n.920G>A
ENST00000646777.1:n.1479-1G>A
ENST00000647016.1:n.1626-1G>A
ENST00000647152.1:c.417-1G>A	ENSP00000495893.1:n.417-1G>A
ENST00000647209.1:c.*1015-1G>A	ENSP00000495558.1:n.*1015-1G>A
ENST00000647346.1:n.2166-1G>A
ENST00000299427.10:c.1146-1G>A	ENSP00000299427.6:n.1146-1G>A
ENST00000524924.1:n.101-1G>A
ENST00000532191.1:n.198G>A
ENST00000533371.5:c.417-1G>A	ENSP00000437066.1:n.417-1G>A
ENST00000611494.4:c.1146-1G>A	ENSP00000484546.1:n.1146-1G>A
NM_000391.3:c.1146-1G>A	NP_000382.3:n.1146-1G>A
NM_000391.4:c.1146-1G>A MANE Select	NP_000382.3:n.1146-1G>A