Canonical Allele Identifier: CA379474386

Gene: TPP1

Linked Data

• ClinVar Variation Id: 510021
• ClinVar RCV Id: RCV000615574
• dbSNP Id: rs1554901808
• MyVariant Identifiers: chr11:g.6637661C>G (hg19) ; chr11:g.6616430C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616430C>G , CM000673.2:g.6616430C>G	GRCh38
NC_000011.9:g.6637661C>G , CM000673.1:g.6637661C>G	GRCh37
NC_000011.8:g.6594237C>G	NCBI36
NG_008653.1:g.8032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.846G>C	ENSP00000507321.1:p.Val282=
ENST00000299427.12:c.960G>C MANE Select	ENSP00000299427.6:p.Val320=
ENST00000436873.7:c.313-356G>C
ENST00000530040.2:n.553G>C
ENST00000533371.6:c.231G>C	ENSP00000437066.1:p.Val77=
ENST00000642892.1:c.231G>C	ENSP00000494165.1:p.Val77=
ENST00000643342.1:c.50G>C
ENST00000643439.1:c.*700G>C	ENSP00000495849.1:n.*700G>C
ENST00000643479.1:n.1146G>C
ENST00000643516.1:c.469G>C
ENST00000644218.1:c.886+231G>C	ENSP00000493574.1:n.886+231G>C
ENST00000644683.1:c.*413G>C	ENSP00000494085.1:n.*413G>C
ENST00000644810.1:c.681G>C	ENSP00000495895.1:p.Val227=
ENST00000644831.1:n.1136G>C
ENST00000644933.1:c.231G>C	ENSP00000496133.1:p.Val77=
ENST00000645285.1:c.157+231G>C	ENSP00000495058.1:n.157+231G>C
ENST00000645331.1:n.1483G>C
ENST00000645620.1:c.231G>C	ENSP00000493657.1:p.Val77=
ENST00000646691.1:n.53G>C
ENST00000646777.1:n.1293G>C
ENST00000647016.1:n.1440G>C
ENST00000647152.1:c.231G>C	ENSP00000495893.1:p.Val77=
ENST00000647209.1:c.*829G>C	ENSP00000495558.1:n.*829G>C
ENST00000647346.1:n.1980G>C
ENST00000299427.10:c.960G>C	ENSP00000299427.6:p.Val320=
ENST00000436873.6:c.524G>C	ENSP00000398136.2:p.Cys175Ser
ENST00000533371.5:c.231G>C	ENSP00000437066.1:p.Val77=
ENST00000611494.4:c.960G>C	ENSP00000484546.1:p.Val320=
NM_000391.3:c.960G>C	NP_000382.3:p.Val320=
NM_000391.4:c.960G>C MANE Select	NP_000382.3:p.Val320=