Canonical Allele Identifier: CA217321591

Gene: TPP1

Linked Data

• dbSNP Id: rs761998339
• gnomAD v4: 11-6615276-A-C
• MyVariant Identifiers: chr11:g.6636507A>C (hg19) ; chr11:g.6615276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615276A>C , CM000673.2:g.6615276A>C	GRCh38
NC_000011.9:g.6636507A>C , CM000673.1:g.6636507A>C	GRCh37
NC_000011.8:g.6593083A>C	NCBI36
NG_008653.1:g.9186T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1206T>G	ENSP00000507321.1:p.Ser402Arg
ENST00000299427.12:c.1320T>G MANE Select	ENSP00000299427.6:p.Ser440Arg
ENST00000524611.2:n.180T>G
ENST00000524924.2:n.440T>G
ENST00000533371.6:c.591T>G	ENSP00000437066.1:p.Ser197Arg
ENST00000642892.1:c.591T>G	ENSP00000494165.1:p.Ser197Arg
ENST00000643342.1:c.393T>G
ENST00000643439.1:c.*1060T>G	ENSP00000495849.1:n.*1060T>G
ENST00000643479.1:n.1506T>G
ENST00000643516.1:c.829T>G
ENST00000644218.1:c.1131T>G	ENSP00000493574.1:p.Ser377Arg
ENST00000644683.1:c.*773T>G	ENSP00000494085.1:n.*773T>G
ENST00000644810.1:c.1041T>G	ENSP00000495895.1:p.Ser347Arg
ENST00000644831.1:n.1496T>G
ENST00000644933.1:c.*186T>G	ENSP00000496133.1:n.*186T>G
ENST00000645285.1:c.*186T>G	ENSP00000495058.1:n.*186T>G
ENST00000645331.1:n.2525T>G
ENST00000645620.1:c.591T>G	ENSP00000493657.1:p.Ser197Arg
ENST00000646691.1:n.1207T>G
ENST00000646777.1:n.1653T>G
ENST00000647016.1:n.1800T>G
ENST00000647152.1:c.591T>G	ENSP00000495893.1:p.Ser197Arg
ENST00000647209.1:c.*1189T>G	ENSP00000495558.1:n.*1189T>G
ENST00000647346.1:n.2340T>G
ENST00000299427.10:c.1320T>G	ENSP00000299427.6:p.Ser440Arg
ENST00000524611.1:n.198T>G
ENST00000524924.1:n.275T>G
ENST00000532191.1:n.373T>G
ENST00000533371.5:c.591T>G	ENSP00000437066.1:p.Ser197Arg
ENST00000611494.4:c.1320T>G	ENSP00000484546.1:p.Ser440Arg
NM_000391.3:c.1320T>G	NP_000382.3:p.Ser440Arg
NM_000391.4:c.1320T>G MANE Select	NP_000382.3:p.Ser440Arg