Canonical Allele Identifier: CA472771437

Gene: TPP1

Linked Data

• dbSNP Id: rs770900822
• gnomAD v4: 11-6615448-T-G
• MyVariant Identifiers: chr11:g.6636679T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615448T>G , CM000673.2:g.6615448T>G	GRCh38
NC_000011.9:g.6636679T>G , CM000673.1:g.6636679T>G	GRCh37
NC_000011.8:g.6593255T>G	NCBI36
NG_008653.1:g.9014A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1146A>C	ENSP00000507321.1:p.Ser382=
ENST00000299427.12:c.1260A>C MANE Select	ENSP00000299427.6:p.Ser420=
ENST00000436873.7:c.497A>C
ENST00000524611.2:n.8A>C
ENST00000524924.2:n.380A>C
ENST00000533371.6:c.531A>C	ENSP00000437066.1:p.Ser177=
ENST00000642892.1:c.531A>C	ENSP00000494165.1:p.Ser177=
ENST00000643342.1:c.333A>C
ENST00000643439.1:c.*1000A>C	ENSP00000495849.1:n.*1000A>C
ENST00000643479.1:n.1446A>C
ENST00000643516.1:c.769A>C
ENST00000644218.1:c.1071A>C	ENSP00000493574.1:p.Ser357=
ENST00000644683.1:c.*713A>C	ENSP00000494085.1:n.*713A>C
ENST00000644810.1:c.981A>C	ENSP00000495895.1:p.Ser327=
ENST00000644831.1:n.1436A>C
ENST00000644933.1:c.*126A>C	ENSP00000496133.1:n.*126A>C
ENST00000645285.1:c.*126A>C	ENSP00000495058.1:n.*126A>C
ENST00000645331.1:n.2465A>C
ENST00000645620.1:c.531A>C	ENSP00000493657.1:p.Ser177=
ENST00000646691.1:n.1035A>C
ENST00000646777.1:n.1593A>C
ENST00000647016.1:n.1740A>C
ENST00000647152.1:c.531A>C	ENSP00000495893.1:p.Ser177=
ENST00000647209.1:c.*1129A>C	ENSP00000495558.1:n.*1129A>C
ENST00000647346.1:n.2280A>C
ENST00000299427.10:c.1260A>C	ENSP00000299427.6:p.Ser420=
ENST00000524611.1:n.26A>C
ENST00000524924.1:n.215A>C
ENST00000532191.1:n.313A>C
ENST00000533371.5:c.531A>C	ENSP00000437066.1:p.Ser177=
ENST00000611494.4:c.1260A>C	ENSP00000484546.1:p.Ser420=
NM_000391.3:c.1260A>C	NP_000382.3:p.Ser420=
NM_000391.4:c.1260A>C MANE Select	NP_000382.3:p.Ser420=