Canonical Allele Identifier: CA5858586

Gene: TPP1

Linked Data

• dbSNP Id: rs774621082
• ExAC: 11:6635764 T / G
• gnomAD v2: 11-6635764-T-G
• gnomAD v4: 11-6614533-T-G
• MyVariant Identifiers: chr11:g.6635764T>G (hg19) ; chr11:g.6614533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614533T>G , CM000673.2:g.6614533T>G	GRCh38
NC_000011.9:g.6635764T>G , CM000673.1:g.6635764T>G	GRCh37
NC_000011.8:g.6592340T>G	NCBI36
NG_008653.1:g.9929A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*13A>C	ENSP00000507321.1:n.*13A>C
ENST00000299427.12:c.*13A>C MANE Select	ENSP00000299427.6:n.*13A>C
ENST00000524611.2:n.744A>C
ENST00000533371.6:c.*13A>C	ENSP00000437066.1:n.*13A>C
ENST00000642892.1:c.*13A>C	ENSP00000494165.1:n.*13A>C
ENST00000643342.1:c.778A>C
ENST00000643439.1:c.*1445A>C	ENSP00000495849.1:n.*1445A>C
ENST00000643479.1:n.1891A>C
ENST00000643516.1:c.1214A>C
ENST00000644218.1:c.*13A>C	ENSP00000493574.1:n.*13A>C
ENST00000644683.1:c.*1158A>C	ENSP00000494085.1:n.*1158A>C
ENST00000644810.1:c.*13A>C	ENSP00000495895.1:n.*13A>C
ENST00000644831.1:n.1881A>C
ENST00000644933.1:c.*571A>C	ENSP00000496133.1:n.*571A>C
ENST00000645285.1:c.*571A>C	ENSP00000495058.1:n.*571A>C
ENST00000645331.1:n.2910A>C
ENST00000645620.1:c.*13A>C	ENSP00000493657.1:n.*13A>C
ENST00000646691.1:n.1592A>C
ENST00000646777.1:n.2038A>C
ENST00000647016.1:n.2185A>C
ENST00000647152.1:c.*13A>C	ENSP00000495893.1:n.*13A>C
ENST00000647209.1:c.*1574A>C	ENSP00000495558.1:n.*1574A>C
ENST00000647346.1:n.2725A>C
ENST00000299427.10:c.*13A>C	ENSP00000299427.6:n.*13A>C
ENST00000533371.5:c.*13A>C	ENSP00000437066.1:n.*13A>C
ENST00000611494.4:c.*33A>C	ENSP00000484546.1:n.*33A>C
NM_000391.3:c.*13A>C	NP_000382.3:n.*13A>C
NM_000391.4:c.*13A>C MANE Select	NP_000382.3:n.*13A>C