Canonical Allele Identifier: CA379472979

Gene: TPP1

Linked Data

• ClinVar Variation Id: 580299
• ClinVar RCV Id: RCV000703789
• dbSNP Id: rs1564854446
• gnomAD v4: 11-6615500-A-G
• MyVariant Identifiers: chr11:g.6636731A>G (hg19) ; chr11:g.6615500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615500A>G , CM000673.2:g.6615500A>G	GRCh38
NC_000011.9:g.6636731A>G , CM000673.1:g.6636731A>G	GRCh37
NC_000011.8:g.6593307A>G	NCBI36
NG_008653.1:g.8962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1094T>C	ENSP00000507321.1:p.Ile365Thr
ENST00000299427.12:c.1208T>C MANE Select	ENSP00000299427.6:p.Ile403Thr
ENST00000436873.7:c.445T>C
ENST00000524924.2:n.328T>C
ENST00000533371.6:c.479T>C	ENSP00000437066.1:p.Ile160Thr
ENST00000642892.1:c.479T>C	ENSP00000494165.1:p.Ile160Thr
ENST00000643342.1:c.281T>C
ENST00000643439.1:c.*948T>C	ENSP00000495849.1:n.*948T>C
ENST00000643479.1:n.1394T>C
ENST00000643516.1:c.717T>C
ENST00000644218.1:c.1019T>C	ENSP00000493574.1:p.Ile340Thr
ENST00000644683.1:c.*661T>C	ENSP00000494085.1:n.*661T>C
ENST00000644810.1:c.929T>C	ENSP00000495895.1:p.Ile310Thr
ENST00000644831.1:n.1384T>C
ENST00000644933.1:c.*74T>C	ENSP00000496133.1:n.*74T>C
ENST00000645285.1:c.*74T>C	ENSP00000495058.1:n.*74T>C
ENST00000645331.1:n.2413T>C
ENST00000645620.1:c.479T>C	ENSP00000493657.1:p.Ile160Thr
ENST00000646691.1:n.983T>C
ENST00000646777.1:n.1541T>C
ENST00000647016.1:n.1688T>C
ENST00000647152.1:c.479T>C	ENSP00000495893.1:p.Ile160Thr
ENST00000647209.1:c.*1077T>C	ENSP00000495558.1:n.*1077T>C
ENST00000647346.1:n.2228T>C
ENST00000299427.10:c.1208T>C	ENSP00000299427.6:p.Ile403Thr
ENST00000524924.1:n.163T>C
ENST00000532191.1:n.261T>C
ENST00000533371.5:c.479T>C	ENSP00000437066.1:p.Ile160Thr
ENST00000611494.4:c.1208T>C	ENSP00000484546.1:p.Ile403Thr
NM_000391.3:c.1208T>C	NP_000382.3:p.Ile403Thr
NM_000391.4:c.1208T>C MANE Select	NP_000382.3:p.Ile403Thr