Canonical Allele Identifier: CA379472601

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1920628
• ClinVar RCV Id: RCV002591249
• dbSNP Id: rs1417099610
• gnomAD v2: 11-6636447-C-G
• gnomAD v4: 11-6615216-C-G
• MyVariant Identifiers: chr11:g.6636447C>G (hg19) ; chr11:g.6615216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615216C>G , CM000673.2:g.6615216C>G	GRCh38
NC_000011.9:g.6636447C>G , CM000673.1:g.6636447C>G	GRCh37
NC_000011.8:g.6593023C>G	NCBI36
NG_008653.1:g.9246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1266G>C	ENSP00000507321.1:p.Trp422Cys
ENST00000299427.12:c.1380G>C MANE Select	ENSP00000299427.6:p.Trp460Cys
ENST00000524611.2:n.240G>C
ENST00000524924.2:n.500G>C
ENST00000533371.6:c.651G>C	ENSP00000437066.1:p.Trp217Cys
ENST00000642892.1:c.651G>C	ENSP00000494165.1:p.Trp217Cys
ENST00000643342.1:c.453G>C
ENST00000643439.1:c.*1120G>C	ENSP00000495849.1:n.*1120G>C
ENST00000643479.1:n.1566G>C
ENST00000643516.1:c.889G>C
ENST00000644218.1:c.1191G>C	ENSP00000493574.1:p.Trp397Cys
ENST00000644683.1:c.*833G>C	ENSP00000494085.1:n.*833G>C
ENST00000644810.1:c.1101G>C	ENSP00000495895.1:p.Trp367Cys
ENST00000644831.1:n.1556G>C
ENST00000644933.1:c.*246G>C	ENSP00000496133.1:n.*246G>C
ENST00000645285.1:c.*246G>C	ENSP00000495058.1:n.*246G>C
ENST00000645331.1:n.2585G>C
ENST00000645620.1:c.651G>C	ENSP00000493657.1:p.Trp217Cys
ENST00000646691.1:n.1267G>C
ENST00000646777.1:n.1713G>C
ENST00000647016.1:n.1860G>C
ENST00000647152.1:c.651G>C	ENSP00000495893.1:p.Trp217Cys
ENST00000647209.1:c.*1249G>C	ENSP00000495558.1:n.*1249G>C
ENST00000647346.1:n.2400G>C
ENST00000299427.10:c.1380G>C	ENSP00000299427.6:p.Trp460Cys
ENST00000524611.1:n.258G>C
ENST00000532191.1:n.433G>C
ENST00000533371.5:c.651G>C	ENSP00000437066.1:p.Trp217Cys
ENST00000611494.4:c.1380G>C	ENSP00000484546.1:p.Trp460Cys
NM_000391.3:c.1380G>C	NP_000382.3:p.Trp460Cys
NM_000391.4:c.1380G>C MANE Select	NP_000382.3:p.Trp460Cys