Canonical Allele Identifier: CA16041509

Gene: TPP1

Linked Data

• ClinVar Variation Id: 370467
• ClinVar RCV Id: RCV000409021
• dbSNP Id: rs1057516511
• gnomAD v3: 11-6614687-C-T
• gnomAD v4: 11-6614687-C-T
• MyVariant Identifiers: chr11:g.6635918C>T (hg19) ; chr11:g.6614687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614687C>T , CM000673.2:g.6614687C>T	GRCh38
NC_000011.9:g.6635918C>T , CM000673.1:g.6635918C>T	GRCh37
NC_000011.8:g.6592494C>T	NCBI36
NG_008653.1:g.9775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1438-1G>A	ENSP00000507321.1:n.1438-1G>A
ENST00000299427.12:c.1552-1G>A MANE Select	ENSP00000299427.6:n.1552-1G>A
ENST00000524611.2:n.590G>A
ENST00000524924.2:n.672-1G>A
ENST00000533371.6:c.823-1G>A	ENSP00000437066.1:n.823-1G>A
ENST00000642892.1:c.823-1G>A	ENSP00000494165.1:n.823-1G>A
ENST00000643342.1:c.625-1G>A
ENST00000643439.1:c.*1292-1G>A	ENSP00000495849.1:n.*1292-1G>A
ENST00000643479.1:n.1738-1G>A
ENST00000643516.1:c.1061-1G>A
ENST00000644218.1:c.1363-1G>A	ENSP00000493574.1:n.1363-1G>A
ENST00000644683.1:c.*1005-1G>A	ENSP00000494085.1:n.*1005-1G>A
ENST00000644810.1:c.1273-1G>A	ENSP00000495895.1:n.1273-1G>A
ENST00000644831.1:n.1728-1G>A
ENST00000644933.1:c.*418-1G>A	ENSP00000496133.1:n.*418-1G>A
ENST00000645285.1:c.*418-1G>A	ENSP00000495058.1:n.*418-1G>A
ENST00000645331.1:n.2757-1G>A
ENST00000645620.1:c.823-1G>A	ENSP00000493657.1:n.823-1G>A
ENST00000646691.1:n.1439-1G>A
ENST00000646777.1:n.1885-1G>A
ENST00000647016.1:n.2032-1G>A
ENST00000647152.1:c.823-1G>A	ENSP00000495893.1:n.823-1G>A
ENST00000647209.1:c.*1421-1G>A	ENSP00000495558.1:n.*1421-1G>A
ENST00000647346.1:n.2572-1G>A
ENST00000299427.10:c.1552-1G>A	ENSP00000299427.6:n.1552-1G>A
ENST00000524611.1:n.430-1G>A
ENST00000533371.5:c.823-1G>A	ENSP00000437066.1:n.823-1G>A
ENST00000611494.4:c.1552-1G>A	ENSP00000484546.1:n.1552-1G>A
NM_000391.3:c.1552-1G>A	NP_000382.3:n.1552-1G>A
NM_000391.4:c.1552-1G>A MANE Select	NP_000382.3:n.1552-1G>A