Canonical Allele Identifier: CA217320865

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1204442
• ClinVar RCV Id: RCV001570788
• dbSNP Id: rs113995349
• gnomAD v2: 11-6635971-G-A
• gnomAD v3: 11-6614740-G-A
• gnomAD v4: 11-6614740-G-A
• MyVariant Identifiers: chr11:g.6635971G>A (hg19) ; chr11:g.6614740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614740G>A , CM000673.2:g.6614740G>A	GRCh38
NC_000011.9:g.6635971G>A , CM000673.1:g.6635971G>A	GRCh37
NC_000011.8:g.6592547G>A	NCBI36
NG_008653.1:g.9722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1438-54C>T	ENSP00000507321.1:n.1438-54C>T
ENST00000299427.12:c.1552-54C>T MANE Select	ENSP00000299427.6:n.1552-54C>T
ENST00000524611.2:n.537C>T
ENST00000524924.2:n.672-54C>T
ENST00000533371.6:c.823-54C>T	ENSP00000437066.1:n.823-54C>T
ENST00000642892.1:c.823-54C>T	ENSP00000494165.1:n.823-54C>T
ENST00000643342.1:c.625-54C>T
ENST00000643439.1:c.*1292-54C>T	ENSP00000495849.1:n.*1292-54C>T
ENST00000643479.1:n.1738-54C>T
ENST00000643516.1:c.1061-54C>T
ENST00000644218.1:c.1363-54C>T	ENSP00000493574.1:n.1363-54C>T
ENST00000644683.1:c.*1005-54C>T	ENSP00000494085.1:n.*1005-54C>T
ENST00000644810.1:c.1273-54C>T	ENSP00000495895.1:n.1273-54C>T
ENST00000644831.1:n.1728-54C>T
ENST00000644933.1:c.*418-54C>T	ENSP00000496133.1:n.*418-54C>T
ENST00000645285.1:c.*418-54C>T	ENSP00000495058.1:n.*418-54C>T
ENST00000645331.1:n.2757-54C>T
ENST00000645620.1:c.823-54C>T	ENSP00000493657.1:n.823-54C>T
ENST00000646691.1:n.1439-54C>T
ENST00000646777.1:n.1885-54C>T
ENST00000647016.1:n.2032-54C>T
ENST00000647152.1:c.823-54C>T	ENSP00000495893.1:n.823-54C>T
ENST00000647209.1:c.*1421-54C>T	ENSP00000495558.1:n.*1421-54C>T
ENST00000647346.1:n.2572-54C>T
ENST00000299427.10:c.1552-54C>T	ENSP00000299427.6:n.1552-54C>T
ENST00000524611.1:n.430-54C>T
ENST00000533371.5:c.823-54C>T	ENSP00000437066.1:n.823-54C>T
ENST00000611494.4:c.1552-54C>T	ENSP00000484546.1:n.1552-54C>T
NM_000391.3:c.1552-54C>T	NP_000382.3:n.1552-54C>T
NM_000391.4:c.1552-54C>T MANE Select	NP_000382.3:n.1552-54C>T