Canonical Allele Identifier: CA379472776

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615299-T-G
• MyVariant Identifiers: chr11:g.6636530T>G (hg19) ; chr11:g.6615299T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615299T>G , CM000673.2:g.6615299T>G	GRCh38
NC_000011.9:g.6636530T>G , CM000673.1:g.6636530T>G	GRCh37
NC_000011.8:g.6593106T>G	NCBI36
NG_008653.1:g.9163A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1183A>C	ENSP00000507321.1:p.Ser395Arg
ENST00000299427.12:c.1297A>C MANE Select	ENSP00000299427.6:p.Ser433Arg
ENST00000524611.2:n.157A>C
ENST00000524924.2:n.417A>C
ENST00000533371.6:c.568A>C	ENSP00000437066.1:p.Ser190Arg
ENST00000642892.1:c.568A>C	ENSP00000494165.1:p.Ser190Arg
ENST00000643342.1:c.370A>C
ENST00000643439.1:c.*1037A>C	ENSP00000495849.1:n.*1037A>C
ENST00000643479.1:n.1483A>C
ENST00000643516.1:c.806A>C
ENST00000644218.1:c.1108A>C	ENSP00000493574.1:p.Ser370Arg
ENST00000644683.1:c.*750A>C	ENSP00000494085.1:n.*750A>C
ENST00000644810.1:c.1018A>C	ENSP00000495895.1:p.Ser340Arg
ENST00000644831.1:n.1473A>C
ENST00000644933.1:c.*163A>C	ENSP00000496133.1:n.*163A>C
ENST00000645285.1:c.*163A>C	ENSP00000495058.1:n.*163A>C
ENST00000645331.1:n.2502A>C
ENST00000645620.1:c.568A>C	ENSP00000493657.1:p.Ser190Arg
ENST00000646691.1:n.1184A>C
ENST00000646777.1:n.1630A>C
ENST00000647016.1:n.1777A>C
ENST00000647152.1:c.568A>C	ENSP00000495893.1:p.Ser190Arg
ENST00000647209.1:c.*1166A>C	ENSP00000495558.1:n.*1166A>C
ENST00000647346.1:n.2317A>C
ENST00000299427.10:c.1297A>C	ENSP00000299427.6:p.Ser433Arg
ENST00000524611.1:n.175A>C
ENST00000524924.1:n.252A>C
ENST00000532191.1:n.350A>C
ENST00000533371.5:c.568A>C	ENSP00000437066.1:p.Ser190Arg
ENST00000611494.4:c.1297A>C	ENSP00000484546.1:p.Ser433Arg
NM_000391.3:c.1297A>C	NP_000382.3:p.Ser433Arg
NM_000391.4:c.1297A>C MANE Select	NP_000382.3:p.Ser433Arg