Canonical Allele Identifier: CA379473172

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2069634
• ClinVar RCV Id: RCV002962330
• MyVariant Identifiers: chr11:g.6636783T>G (hg19) ; chr11:g.6615552T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615552T>G , CM000673.2:g.6615552T>G	GRCh38
NC_000011.9:g.6636783T>G , CM000673.1:g.6636783T>G	GRCh37
NC_000011.8:g.6593359T>G	NCBI36
NG_008653.1:g.8910A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1042A>C	ENSP00000507321.1:p.Thr348Pro
ENST00000299427.12:c.1156A>C MANE Select	ENSP00000299427.6:p.Thr386Pro
ENST00000436873.7:c.393A>C
ENST00000524924.2:n.276A>C
ENST00000533371.6:c.427A>C	ENSP00000437066.1:p.Thr143Pro
ENST00000642892.1:c.427A>C	ENSP00000494165.1:p.Thr143Pro
ENST00000643342.1:c.236-7A>C
ENST00000643439.1:c.*896A>C	ENSP00000495849.1:n.*896A>C
ENST00000643479.1:n.1342A>C
ENST00000643516.1:c.665A>C
ENST00000644218.1:c.967A>C	ENSP00000493574.1:p.Thr323Pro
ENST00000644683.1:c.*609A>C	ENSP00000494085.1:n.*609A>C
ENST00000644810.1:c.877A>C	ENSP00000495895.1:p.Thr293Pro
ENST00000644831.1:n.1332A>C
ENST00000644933.1:c.*22A>C	ENSP00000496133.1:n.*22A>C
ENST00000645285.1:c.*22A>C	ENSP00000495058.1:n.*22A>C
ENST00000645331.1:n.2361A>C
ENST00000645620.1:c.427A>C	ENSP00000493657.1:p.Thr143Pro
ENST00000646691.1:n.931A>C
ENST00000646777.1:n.1489A>C
ENST00000647016.1:n.1636A>C
ENST00000647152.1:c.427A>C	ENSP00000495893.1:p.Thr143Pro
ENST00000647209.1:c.*1025A>C	ENSP00000495558.1:n.*1025A>C
ENST00000647346.1:n.2176A>C
ENST00000299427.10:c.1156A>C	ENSP00000299427.6:p.Thr386Pro
ENST00000524924.1:n.111A>C
ENST00000532191.1:n.209A>C
ENST00000533371.5:c.427A>C	ENSP00000437066.1:p.Thr143Pro
ENST00000611494.4:c.1156A>C	ENSP00000484546.1:p.Thr386Pro
NM_000391.3:c.1156A>C	NP_000382.3:p.Thr386Pro
NM_000391.4:c.1156A>C MANE Select	NP_000382.3:p.Thr386Pro