Canonical Allele Identifier: CA319227

Gene: TPP1

Linked Data

• ClinVar Variation Id: 207601
• ClinVar RCV Id: RCV000189801 ; RCV001833132
• dbSNP Id: rs755829911
• gnomAD v2: 11-6636524-G-C
• gnomAD v4: 11-6615293-G-C
• MyVariant Identifiers: chr11:g.6636524G>C (hg19) ; chr11:g.6615293G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615293G>C , CM000673.2:g.6615293G>C	GRCh38
NC_000011.9:g.6636524G>C , CM000673.1:g.6636524G>C	GRCh37
NC_000011.8:g.6593100G>C	NCBI36
NG_008653.1:g.9169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1189C>G	ENSP00000507321.1:p.His397Asp
ENST00000299427.12:c.1303C>G MANE Select	ENSP00000299427.6:p.His435Asp
ENST00000524611.2:n.163C>G
ENST00000524924.2:n.423C>G
ENST00000533371.6:c.574C>G	ENSP00000437066.1:p.His192Asp
ENST00000642892.1:c.574C>G	ENSP00000494165.1:p.His192Asp
ENST00000643342.1:c.376C>G
ENST00000643439.1:c.*1043C>G	ENSP00000495849.1:n.*1043C>G
ENST00000643479.1:n.1489C>G
ENST00000643516.1:c.812C>G
ENST00000644218.1:c.1114C>G	ENSP00000493574.1:p.His372Asp
ENST00000644683.1:c.*756C>G	ENSP00000494085.1:n.*756C>G
ENST00000644810.1:c.1024C>G	ENSP00000495895.1:p.His342Asp
ENST00000644831.1:n.1479C>G
ENST00000644933.1:c.*169C>G	ENSP00000496133.1:n.*169C>G
ENST00000645285.1:c.*169C>G	ENSP00000495058.1:n.*169C>G
ENST00000645331.1:n.2508C>G
ENST00000645620.1:c.574C>G	ENSP00000493657.1:p.His192Asp
ENST00000646691.1:n.1190C>G
ENST00000646777.1:n.1636C>G
ENST00000647016.1:n.1783C>G
ENST00000647152.1:c.574C>G	ENSP00000495893.1:p.His192Asp
ENST00000647209.1:c.*1172C>G	ENSP00000495558.1:n.*1172C>G
ENST00000647346.1:n.2323C>G
ENST00000299427.10:c.1303C>G	ENSP00000299427.6:p.His435Asp
ENST00000524611.1:n.181C>G
ENST00000524924.1:n.258C>G
ENST00000532191.1:n.356C>G
ENST00000533371.5:c.574C>G	ENSP00000437066.1:p.His192Asp
ENST00000611494.4:c.1303C>G	ENSP00000484546.1:p.His435Asp
NM_000391.3:c.1303C>G	NP_000382.3:p.His435Asp
NM_000391.4:c.1303C>G MANE Select	NP_000382.3:p.His435Asp