Canonical Allele Identifier: CA379472594

Gene: TPP1

Linked Data

• dbSNP Id: rs1589947631
• MyVariant Identifiers: chr11:g.6636445A>C (hg19) ; chr11:g.6615214A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615214A>C , CM000673.2:g.6615214A>C	GRCh38
NC_000011.9:g.6636445A>C , CM000673.1:g.6636445A>C	GRCh37
NC_000011.8:g.6593021A>C	NCBI36
NG_008653.1:g.9248T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1268T>G	ENSP00000507321.1:p.Val423Gly
ENST00000299427.12:c.1382T>G MANE Select	ENSP00000299427.6:p.Val461Gly
ENST00000524611.2:n.242T>G
ENST00000524924.2:n.502T>G
ENST00000533371.6:c.653T>G	ENSP00000437066.1:p.Val218Gly
ENST00000642892.1:c.653T>G	ENSP00000494165.1:p.Val218Gly
ENST00000643342.1:c.455T>G
ENST00000643439.1:c.*1122T>G	ENSP00000495849.1:n.*1122T>G
ENST00000643479.1:n.1568T>G
ENST00000643516.1:c.891T>G
ENST00000644218.1:c.1193T>G	ENSP00000493574.1:p.Val398Gly
ENST00000644683.1:c.*835T>G	ENSP00000494085.1:n.*835T>G
ENST00000644810.1:c.1103T>G	ENSP00000495895.1:p.Val368Gly
ENST00000644831.1:n.1558T>G
ENST00000644933.1:c.*248T>G	ENSP00000496133.1:n.*248T>G
ENST00000645285.1:c.*248T>G	ENSP00000495058.1:n.*248T>G
ENST00000645331.1:n.2587T>G
ENST00000645620.1:c.653T>G	ENSP00000493657.1:p.Val218Gly
ENST00000646691.1:n.1269T>G
ENST00000646777.1:n.1715T>G
ENST00000647016.1:n.1862T>G
ENST00000647152.1:c.653T>G	ENSP00000495893.1:p.Val218Gly
ENST00000647209.1:c.*1251T>G	ENSP00000495558.1:n.*1251T>G
ENST00000647346.1:n.2402T>G
ENST00000299427.10:c.1382T>G	ENSP00000299427.6:p.Val461Gly
ENST00000524611.1:n.260T>G
ENST00000533371.5:c.653T>G	ENSP00000437066.1:p.Val218Gly
ENST00000611494.4:c.1382T>G	ENSP00000484546.1:p.Val461Gly
NM_000391.3:c.1382T>G	NP_000382.3:p.Val461Gly
NM_000391.4:c.1382T>G MANE Select	NP_000382.3:p.Val461Gly