Canonical Allele Identifier: CA379473120

Gene: TPP1

Linked Data

• dbSNP Id: rs1034574749
• gnomAD v4: 11-6615537-T-G
• MyVariant Identifiers: chr11:g.6636768T>G (hg19) ; chr11:g.6615537T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615537T>G , CM000673.2:g.6615537T>G	GRCh38
NC_000011.9:g.6636768T>G , CM000673.1:g.6636768T>G	GRCh37
NC_000011.8:g.6593344T>G	NCBI36
NG_008653.1:g.8925A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1057A>C	ENSP00000507321.1:p.Thr353Pro
ENST00000299427.12:c.1171A>C MANE Select	ENSP00000299427.6:p.Thr391Pro
ENST00000436873.7:c.408A>C
ENST00000524924.2:n.291A>C
ENST00000533371.6:c.442A>C	ENSP00000437066.1:p.Thr148Pro
ENST00000642892.1:c.442A>C	ENSP00000494165.1:p.Thr148Pro
ENST00000643342.1:c.244A>C
ENST00000643439.1:c.*911A>C	ENSP00000495849.1:n.*911A>C
ENST00000643479.1:n.1357A>C
ENST00000643516.1:c.680A>C
ENST00000644218.1:c.982A>C	ENSP00000493574.1:p.Thr328Pro
ENST00000644683.1:c.*624A>C	ENSP00000494085.1:n.*624A>C
ENST00000644810.1:c.892A>C	ENSP00000495895.1:p.Thr298Pro
ENST00000644831.1:n.1347A>C
ENST00000644933.1:c.*37A>C	ENSP00000496133.1:n.*37A>C
ENST00000645285.1:c.*37A>C	ENSP00000495058.1:n.*37A>C
ENST00000645331.1:n.2376A>C
ENST00000645620.1:c.442A>C	ENSP00000493657.1:p.Thr148Pro
ENST00000646691.1:n.946A>C
ENST00000646777.1:n.1504A>C
ENST00000647016.1:n.1651A>C
ENST00000647152.1:c.442A>C	ENSP00000495893.1:p.Thr148Pro
ENST00000647209.1:c.*1040A>C	ENSP00000495558.1:n.*1040A>C
ENST00000647346.1:n.2191A>C
ENST00000299427.10:c.1171A>C	ENSP00000299427.6:p.Thr391Pro
ENST00000524924.1:n.126A>C
ENST00000532191.1:n.224A>C
ENST00000533371.5:c.442A>C	ENSP00000437066.1:p.Thr148Pro
ENST00000611494.4:c.1171A>C	ENSP00000484546.1:p.Thr391Pro
NM_000391.3:c.1171A>C	NP_000382.3:p.Thr391Pro
NM_000391.4:c.1171A>C MANE Select	NP_000382.3:p.Thr391Pro