Canonical Allele Identifier: CA5858687

Gene: TPP1

Linked Data

• dbSNP Id: rs775743187
• ExAC: 11:6636602 C / G
• gnomAD v2: 11-6636602-C-G
• gnomAD v3: 11-6615371-C-G
• gnomAD v4: 11-6615371-C-G
• MyVariant Identifiers: chr11:g.6636602C>G (hg19) ; chr11:g.6615371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615371C>G , CM000673.2:g.6615371C>G	GRCh38
NC_000011.9:g.6636602C>G , CM000673.1:g.6636602C>G	GRCh37
NC_000011.8:g.6593178C>G	NCBI36
NG_008653.1:g.9091G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1153-42G>C	ENSP00000507321.1:n.1153-42G>C
ENST00000299427.12:c.1267-42G>C MANE Select	ENSP00000299427.6:n.1267-42G>C
ENST00000436873.7:c.504-42G>C
ENST00000524611.2:n.85G>C
ENST00000524924.2:n.387-42G>C
ENST00000533371.6:c.538-42G>C	ENSP00000437066.1:n.538-42G>C
ENST00000642892.1:c.538-42G>C	ENSP00000494165.1:n.538-42G>C
ENST00000643342.1:c.340-42G>C
ENST00000643439.1:c.*1007-42G>C	ENSP00000495849.1:n.*1007-42G>C
ENST00000643479.1:n.1453-42G>C
ENST00000643516.1:c.776-42G>C
ENST00000644218.1:c.1078-42G>C	ENSP00000493574.1:n.1078-42G>C
ENST00000644683.1:c.*720-42G>C	ENSP00000494085.1:n.*720-42G>C
ENST00000644810.1:c.988-42G>C	ENSP00000495895.1:n.988-42G>C
ENST00000644831.1:n.1443-42G>C
ENST00000644933.1:c.*133-42G>C	ENSP00000496133.1:n.*133-42G>C
ENST00000645285.1:c.*133-42G>C	ENSP00000495058.1:n.*133-42G>C
ENST00000645331.1:n.2472-42G>C
ENST00000645620.1:c.538-42G>C	ENSP00000493657.1:n.538-42G>C
ENST00000646691.1:n.1112G>C
ENST00000646777.1:n.1600-42G>C
ENST00000647016.1:n.1747-42G>C
ENST00000647152.1:c.538-42G>C	ENSP00000495893.1:n.538-42G>C
ENST00000647209.1:c.*1136-42G>C	ENSP00000495558.1:n.*1136-42G>C
ENST00000647346.1:n.2287-42G>C
ENST00000299427.10:c.1267-42G>C	ENSP00000299427.6:n.1267-42G>C
ENST00000524611.1:n.103G>C
ENST00000524924.1:n.222-42G>C
ENST00000532191.1:n.320-42G>C
ENST00000533371.5:c.538-42G>C	ENSP00000437066.1:n.538-42G>C
ENST00000611494.4:c.1267-42G>C	ENSP00000484546.1:n.1267-42G>C
NM_000391.3:c.1267-42G>C	NP_000382.3:n.1267-42G>C
NM_000391.4:c.1267-42G>C MANE Select	NP_000382.3:n.1267-42G>C