Canonical Allele Identifier: CA5858576

Gene: TPP1

Linked Data

• dbSNP Id: rs367879648
• ExAC: 11:6635729 T / A
• gnomAD v2: 11-6635729-T-A
• gnomAD v3: 11-6614498-T-A
• gnomAD v4: 11-6614498-T-A
• MyVariant Identifiers: chr11:g.6635729T>A (hg19) ; chr11:g.6614498T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614498T>A , CM000673.2:g.6614498T>A	GRCh38
NC_000011.9:g.6635729T>A , CM000673.1:g.6635729T>A	GRCh37
NC_000011.8:g.6592305T>A	NCBI36
NG_008653.1:g.9964A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*48A>T	ENSP00000507321.1:n.*48A>T
ENST00000299427.12:c.*48A>T MANE Select	ENSP00000299427.6:n.*48A>T
ENST00000524611.2:n.779A>T
ENST00000533371.6:c.*48A>T	ENSP00000437066.1:n.*48A>T
ENST00000642892.1:c.*48A>T	ENSP00000494165.1:n.*48A>T
ENST00000643342.1:c.813A>T
ENST00000643439.1:c.*1480A>T	ENSP00000495849.1:n.*1480A>T
ENST00000643479.1:n.1926A>T
ENST00000643516.1:c.1249A>T
ENST00000644218.1:c.*48A>T	ENSP00000493574.1:n.*48A>T
ENST00000644683.1:c.*1193A>T	ENSP00000494085.1:n.*1193A>T
ENST00000644810.1:c.*48A>T	ENSP00000495895.1:n.*48A>T
ENST00000644831.1:n.1916A>T
ENST00000644933.1:c.*606A>T	ENSP00000496133.1:n.*606A>T
ENST00000645285.1:c.*606A>T	ENSP00000495058.1:n.*606A>T
ENST00000645331.1:n.2945A>T
ENST00000645620.1:c.*48A>T	ENSP00000493657.1:n.*48A>T
ENST00000646691.1:n.1627A>T
ENST00000646777.1:n.2073A>T
ENST00000647016.1:n.2220A>T
ENST00000647152.1:c.*48A>T	ENSP00000495893.1:n.*48A>T
ENST00000647209.1:c.*1609A>T	ENSP00000495558.1:n.*1609A>T
ENST00000647346.1:n.2760A>T
ENST00000299427.10:c.*48A>T	ENSP00000299427.6:n.*48A>T
ENST00000533371.5:c.*48A>T	ENSP00000437066.1:n.*48A>T
ENST00000611494.4:c.*68A>T	ENSP00000484546.1:n.*68A>T
NM_000391.3:c.*48A>T	NP_000382.3:n.*48A>T
NM_000391.4:c.*48A>T MANE Select	NP_000382.3:n.*48A>T