Canonical Allele Identifier: CA5858697

Gene: TPP1

Linked Data

• ClinVar Variation Id: 457936
• ClinVar RCV Id: RCV000555542
• dbSNP Id: rs752269166
• ExAC: 11:6636665 A / G
• gnomAD v2: 11-6636665-A-G
• gnomAD v3: 11-6615434-A-G
• gnomAD v4: 11-6615434-A-G
• MyVariant Identifiers: chr11:g.6636665A>G (hg19) ; chr11:g.6615434A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615434A>G , CM000673.2:g.6615434A>G	GRCh38
NC_000011.9:g.6636665A>G , CM000673.1:g.6636665A>G	GRCh37
NC_000011.8:g.6593241A>G	NCBI36
NG_008653.1:g.9028T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+8T>C	ENSP00000507321.1:n.1152+8T>C
ENST00000299427.12:c.1266+8T>C MANE Select	ENSP00000299427.6:n.1266+8T>C
ENST00000436873.7:c.503+8T>C
ENST00000524611.2:n.22T>C
ENST00000524924.2:n.386+8T>C
ENST00000533371.6:c.537+8T>C	ENSP00000437066.1:n.537+8T>C
ENST00000642892.1:c.537+8T>C	ENSP00000494165.1:n.537+8T>C
ENST00000643342.1:c.339+8T>C
ENST00000643439.1:c.*1006+8T>C	ENSP00000495849.1:n.*1006+8T>C
ENST00000643479.1:n.1452+8T>C
ENST00000643516.1:c.775+8T>C
ENST00000644218.1:c.1077+8T>C	ENSP00000493574.1:n.1077+8T>C
ENST00000644683.1:c.*719+8T>C	ENSP00000494085.1:n.*719+8T>C
ENST00000644810.1:c.987+8T>C	ENSP00000495895.1:n.987+8T>C
ENST00000644831.1:n.1442+8T>C
ENST00000644933.1:c.*132+8T>C	ENSP00000496133.1:n.*132+8T>C
ENST00000645285.1:c.*132+8T>C	ENSP00000495058.1:n.*132+8T>C
ENST00000645331.1:n.2471+8T>C
ENST00000645620.1:c.537+8T>C	ENSP00000493657.1:n.537+8T>C
ENST00000646691.1:n.1049T>C
ENST00000646777.1:n.1599+8T>C
ENST00000647016.1:n.1746+8T>C
ENST00000647152.1:c.537+8T>C	ENSP00000495893.1:n.537+8T>C
ENST00000647209.1:c.*1135+8T>C	ENSP00000495558.1:n.*1135+8T>C
ENST00000647346.1:n.2286+8T>C
ENST00000299427.10:c.1266+8T>C	ENSP00000299427.6:n.1266+8T>C
ENST00000524611.1:n.40T>C
ENST00000524924.1:n.221+8T>C
ENST00000532191.1:n.319+8T>C
ENST00000533371.5:c.537+8T>C	ENSP00000437066.1:n.537+8T>C
ENST00000611494.4:c.1266+8T>C	ENSP00000484546.1:n.1266+8T>C
NM_000391.3:c.1266+8T>C	NP_000382.3:n.1266+8T>C
NM_000391.4:c.1266+8T>C MANE Select	NP_000382.3:n.1266+8T>C