Canonical Allele Identifier: CA5858585

Gene: TPP1

Linked Data

• dbSNP Id: rs374983247
• ExAC: 11:6635763 C / T
• gnomAD v2: 11-6635763-C-T
• MyVariant Identifiers: chr11:g.6635763C>T (hg19) ; chr11:g.6614532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614532C>T , CM000673.2:g.6614532C>T	GRCh38
NC_000011.9:g.6635763C>T , CM000673.1:g.6635763C>T	GRCh37
NC_000011.8:g.6592339C>T	NCBI36
NG_008653.1:g.9930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*14G>A	ENSP00000507321.1:n.*14G>A
ENST00000299427.12:c.*14G>A MANE Select	ENSP00000299427.6:n.*14G>A
ENST00000524611.2:n.745G>A
ENST00000533371.6:c.*14G>A	ENSP00000437066.1:n.*14G>A
ENST00000642892.1:c.*14G>A	ENSP00000494165.1:n.*14G>A
ENST00000643342.1:c.779G>A
ENST00000643439.1:c.*1446G>A	ENSP00000495849.1:n.*1446G>A
ENST00000643479.1:n.1892G>A
ENST00000643516.1:c.1215G>A
ENST00000644218.1:c.*14G>A	ENSP00000493574.1:n.*14G>A
ENST00000644683.1:c.*1159G>A	ENSP00000494085.1:n.*1159G>A
ENST00000644810.1:c.*14G>A	ENSP00000495895.1:n.*14G>A
ENST00000644831.1:n.1882G>A
ENST00000644933.1:c.*572G>A	ENSP00000496133.1:n.*572G>A
ENST00000645285.1:c.*572G>A	ENSP00000495058.1:n.*572G>A
ENST00000645331.1:n.2911G>A
ENST00000645620.1:c.*14G>A	ENSP00000493657.1:n.*14G>A
ENST00000646691.1:n.1593G>A
ENST00000646777.1:n.2039G>A
ENST00000647016.1:n.2186G>A
ENST00000647152.1:c.*14G>A	ENSP00000495893.1:n.*14G>A
ENST00000647209.1:c.*1575G>A	ENSP00000495558.1:n.*1575G>A
ENST00000647346.1:n.2726G>A
ENST00000299427.10:c.*14G>A	ENSP00000299427.6:n.*14G>A
ENST00000533371.5:c.*14G>A	ENSP00000437066.1:n.*14G>A
ENST00000611494.4:c.*34G>A	ENSP00000484546.1:n.*34G>A
NM_000391.3:c.*14G>A	NP_000382.3:n.*14G>A
NM_000391.4:c.*14G>A MANE Select	NP_000382.3:n.*14G>A