Canonical Allele Identifier: CA379474716

Gene: TPP1

Linked Data

• ClinVar Variation Id: 753662
• ClinVar RCV Id: RCV000930918
• dbSNP Id: rs1589948288
• MyVariant Identifiers: chr11:g.6637727A>G (hg19) ; chr11:g.6616496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616496A>G , CM000673.2:g.6616496A>G	GRCh38
NC_000011.9:g.6637727A>G , CM000673.1:g.6637727A>G	GRCh37
NC_000011.8:g.6594303A>G	NCBI36
NG_008653.1:g.7966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.780T>C	ENSP00000507321.1:p.His260=
ENST00000299427.12:c.894T>C MANE Select	ENSP00000299427.6:p.His298=
ENST00000436873.7:c.313-422T>C
ENST00000530040.2:n.487T>C
ENST00000533371.6:c.165T>C	ENSP00000437066.1:p.His55=
ENST00000642892.1:c.165T>C	ENSP00000494165.1:p.His55=
ENST00000643439.1:c.*634T>C	ENSP00000495849.1:n.*634T>C
ENST00000643479.1:n.1080T>C
ENST00000643516.1:c.403T>C
ENST00000644218.1:c.886+165T>C	ENSP00000493574.1:n.886+165T>C
ENST00000644683.1:c.*347T>C	ENSP00000494085.1:n.*347T>C
ENST00000644810.1:c.615T>C	ENSP00000495895.1:p.His205=
ENST00000644831.1:n.1070T>C
ENST00000644933.1:c.165T>C	ENSP00000496133.1:p.His55=
ENST00000645285.1:c.157+165T>C	ENSP00000495058.1:n.157+165T>C
ENST00000645331.1:n.1417T>C
ENST00000645620.1:c.165T>C	ENSP00000493657.1:p.His55=
ENST00000646777.1:n.1227T>C
ENST00000647016.1:n.1374T>C
ENST00000647152.1:c.165T>C	ENSP00000495893.1:p.His55=
ENST00000647209.1:c.*763T>C	ENSP00000495558.1:n.*763T>C
ENST00000647346.1:n.1914T>C
ENST00000299427.10:c.894T>C	ENSP00000299427.6:p.His298=
ENST00000436873.6:c.458T>C	ENSP00000398136.2:p.Met153Thr
ENST00000533371.5:c.165T>C	ENSP00000437066.1:p.His55=
ENST00000611494.4:c.894T>C	ENSP00000484546.1:p.His298=
NM_000391.3:c.894T>C	NP_000382.3:p.His298=
NM_000391.4:c.894T>C MANE Select	NP_000382.3:p.His298=