Canonical Allele Identifier: CA5858579

Gene: TPP1

Linked Data

• dbSNP Id: rs754846292
• ExAC: 11:6635739 A / G
• gnomAD v2: 11-6635739-A-G
• gnomAD v3: 11-6614508-A-G
• gnomAD v4: 11-6614508-A-G
• MyVariant Identifiers: chr11:g.6635739A>G (hg19) ; chr11:g.6614508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614508A>G , CM000673.2:g.6614508A>G	GRCh38
NC_000011.9:g.6635739A>G , CM000673.1:g.6635739A>G	GRCh37
NC_000011.8:g.6592315A>G	NCBI36
NG_008653.1:g.9954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*38T>C	ENSP00000507321.1:n.*38T>C
ENST00000299427.12:c.*38T>C MANE Select	ENSP00000299427.6:n.*38T>C
ENST00000524611.2:n.769T>C
ENST00000533371.6:c.*38T>C	ENSP00000437066.1:n.*38T>C
ENST00000642892.1:c.*38T>C	ENSP00000494165.1:n.*38T>C
ENST00000643342.1:c.803T>C
ENST00000643439.1:c.*1470T>C	ENSP00000495849.1:n.*1470T>C
ENST00000643479.1:n.1916T>C
ENST00000643516.1:c.1239T>C
ENST00000644218.1:c.*38T>C	ENSP00000493574.1:n.*38T>C
ENST00000644683.1:c.*1183T>C	ENSP00000494085.1:n.*1183T>C
ENST00000644810.1:c.*38T>C	ENSP00000495895.1:n.*38T>C
ENST00000644831.1:n.1906T>C
ENST00000644933.1:c.*596T>C	ENSP00000496133.1:n.*596T>C
ENST00000645285.1:c.*596T>C	ENSP00000495058.1:n.*596T>C
ENST00000645331.1:n.2935T>C
ENST00000645620.1:c.*38T>C	ENSP00000493657.1:n.*38T>C
ENST00000646691.1:n.1617T>C
ENST00000646777.1:n.2063T>C
ENST00000647016.1:n.2210T>C
ENST00000647152.1:c.*38T>C	ENSP00000495893.1:n.*38T>C
ENST00000647209.1:c.*1599T>C	ENSP00000495558.1:n.*1599T>C
ENST00000647346.1:n.2750T>C
ENST00000299427.10:c.*38T>C	ENSP00000299427.6:n.*38T>C
ENST00000533371.5:c.*38T>C	ENSP00000437066.1:n.*38T>C
ENST00000611494.4:c.*58T>C	ENSP00000484546.1:n.*58T>C
NM_000391.3:c.*38T>C	NP_000382.3:n.*38T>C
NM_000391.4:c.*38T>C MANE Select	NP_000382.3:n.*38T>C