Canonical Allele Identifier: CA379472034

Gene: TPP1

Linked Data

• ClinVar Variation Id: 556797
• ClinVar RCV Id: RCV000672851
• dbSNP Id: rs1348967263
• gnomAD v3: 11-6614596-A-G
• gnomAD v4: 11-6614596-A-G
• MyVariant Identifiers: chr11:g.6635827A>G (hg19) ; chr11:g.6614596A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614596A>G , CM000673.2:g.6614596A>G	GRCh38
NC_000011.9:g.6635827A>G , CM000673.1:g.6635827A>G	GRCh37
NC_000011.8:g.6592403A>G	NCBI36
NG_008653.1:g.9866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1528T>C	ENSP00000507321.1:p.Trp510Arg
ENST00000299427.12:c.1642T>C MANE Select	ENSP00000299427.6:p.Trp548Arg
ENST00000524611.2:n.681T>C
ENST00000533371.6:c.913T>C	ENSP00000437066.1:p.Trp305Arg
ENST00000642892.1:c.913T>C	ENSP00000494165.1:p.Trp305Arg
ENST00000643342.1:c.715T>C
ENST00000643439.1:c.*1382T>C	ENSP00000495849.1:n.*1382T>C
ENST00000643479.1:n.1828T>C
ENST00000643516.1:c.1151T>C
ENST00000644218.1:c.1453T>C	ENSP00000493574.1:p.Trp485Arg
ENST00000644683.1:c.*1095T>C	ENSP00000494085.1:n.*1095T>C
ENST00000644810.1:c.1363T>C	ENSP00000495895.1:p.Trp455Arg
ENST00000644831.1:n.1818T>C
ENST00000644933.1:c.*508T>C	ENSP00000496133.1:n.*508T>C
ENST00000645285.1:c.*508T>C	ENSP00000495058.1:n.*508T>C
ENST00000645331.1:n.2847T>C
ENST00000645620.1:c.913T>C	ENSP00000493657.1:p.Trp305Arg
ENST00000646691.1:n.1529T>C
ENST00000646777.1:n.1975T>C
ENST00000647016.1:n.2122T>C
ENST00000647152.1:c.913T>C	ENSP00000495893.1:p.Trp305Arg
ENST00000647209.1:c.*1511T>C	ENSP00000495558.1:n.*1511T>C
ENST00000647346.1:n.2662T>C
ENST00000299427.10:c.1642T>C	ENSP00000299427.6:p.Trp548Arg
ENST00000533371.5:c.913T>C	ENSP00000437066.1:p.Trp305Arg
ENST00000611494.4:c.1642T>C	ENSP00000484546.1:p.Trp548Arg
NM_000391.3:c.1642T>C	NP_000382.3:p.Trp548Arg
NM_000391.4:c.1642T>C MANE Select	NP_000382.3:p.Trp548Arg