Canonical Allele Identifier: CA5858685

Gene: TPP1

Linked Data

• dbSNP Id: rs373139337
• ExAC: 11:6636596 C / G
• gnomAD v2: 11-6636596-C-G
• gnomAD v4: 11-6615365-C-G
• MyVariant Identifiers: chr11:g.6636596C>G (hg19) ; chr11:g.6615365C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615365C>G , CM000673.2:g.6615365C>G	GRCh38
NC_000011.9:g.6636596C>G , CM000673.1:g.6636596C>G	GRCh37
NC_000011.8:g.6593172C>G	NCBI36
NG_008653.1:g.9097G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1153-36G>C	ENSP00000507321.1:n.1153-36G>C
ENST00000299427.12:c.1267-36G>C MANE Select	ENSP00000299427.6:n.1267-36G>C
ENST00000436873.7:c.504-36G>C
ENST00000524611.2:n.91G>C
ENST00000524924.2:n.387-36G>C
ENST00000533371.6:c.538-36G>C	ENSP00000437066.1:n.538-36G>C
ENST00000642892.1:c.538-36G>C	ENSP00000494165.1:n.538-36G>C
ENST00000643342.1:c.340-36G>C
ENST00000643439.1:c.*1007-36G>C	ENSP00000495849.1:n.*1007-36G>C
ENST00000643479.1:n.1453-36G>C
ENST00000643516.1:c.776-36G>C
ENST00000644218.1:c.1078-36G>C	ENSP00000493574.1:n.1078-36G>C
ENST00000644683.1:c.*720-36G>C	ENSP00000494085.1:n.*720-36G>C
ENST00000644810.1:c.988-36G>C	ENSP00000495895.1:n.988-36G>C
ENST00000644831.1:n.1443-36G>C
ENST00000644933.1:c.*133-36G>C	ENSP00000496133.1:n.*133-36G>C
ENST00000645285.1:c.*133-36G>C	ENSP00000495058.1:n.*133-36G>C
ENST00000645331.1:n.2472-36G>C
ENST00000645620.1:c.538-36G>C	ENSP00000493657.1:n.538-36G>C
ENST00000646691.1:n.1118G>C
ENST00000646777.1:n.1600-36G>C
ENST00000647016.1:n.1747-36G>C
ENST00000647152.1:c.538-36G>C	ENSP00000495893.1:n.538-36G>C
ENST00000647209.1:c.*1136-36G>C	ENSP00000495558.1:n.*1136-36G>C
ENST00000647346.1:n.2287-36G>C
ENST00000299427.10:c.1267-36G>C	ENSP00000299427.6:n.1267-36G>C
ENST00000524611.1:n.109G>C
ENST00000524924.1:n.222-36G>C
ENST00000532191.1:n.320-36G>C
ENST00000533371.5:c.538-36G>C	ENSP00000437066.1:n.538-36G>C
ENST00000611494.4:c.1267-36G>C	ENSP00000484546.1:n.1267-36G>C
NM_000391.3:c.1267-36G>C	NP_000382.3:n.1267-36G>C
NM_000391.4:c.1267-36G>C MANE Select	NP_000382.3:n.1267-36G>C