Canonical Allele Identifier: CA5858596

Gene: TPP1

Linked Data

• dbSNP Id: rs535082174
• ExAC: 11:6635822 T / C
• gnomAD v2: 11-6635822-T-C
• gnomAD v3: 11-6614591-T-C
• gnomAD v4: 11-6614591-T-C
• MyVariant Identifiers: chr11:g.6635822T>C (hg19) ; chr11:g.6614591T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614591T>C , CM000673.2:g.6614591T>C	GRCh38
NC_000011.9:g.6635822T>C , CM000673.1:g.6635822T>C	GRCh37
NC_000011.8:g.6592398T>C	NCBI36
NG_008653.1:g.9871A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1533A>G	ENSP00000507321.1:p.Gly511=
ENST00000299427.12:c.1647A>G MANE Select	ENSP00000299427.6:p.Gly549=
ENST00000524611.2:n.686A>G
ENST00000533371.6:c.918A>G	ENSP00000437066.1:p.Gly306=
ENST00000642892.1:c.918A>G	ENSP00000494165.1:p.Gly306=
ENST00000643342.1:c.720A>G
ENST00000643439.1:c.*1387A>G	ENSP00000495849.1:n.*1387A>G
ENST00000643479.1:n.1833A>G
ENST00000643516.1:c.1156A>G
ENST00000644218.1:c.1458A>G	ENSP00000493574.1:p.Gly486=
ENST00000644683.1:c.*1100A>G	ENSP00000494085.1:n.*1100A>G
ENST00000644810.1:c.1368A>G	ENSP00000495895.1:p.Gly456=
ENST00000644831.1:n.1823A>G
ENST00000644933.1:c.*513A>G	ENSP00000496133.1:n.*513A>G
ENST00000645285.1:c.*513A>G	ENSP00000495058.1:n.*513A>G
ENST00000645331.1:n.2852A>G
ENST00000645620.1:c.918A>G	ENSP00000493657.1:p.Gly306=
ENST00000646691.1:n.1534A>G
ENST00000646777.1:n.1980A>G
ENST00000647016.1:n.2127A>G
ENST00000647152.1:c.918A>G	ENSP00000495893.1:p.Gly306=
ENST00000647209.1:c.*1516A>G	ENSP00000495558.1:n.*1516A>G
ENST00000647346.1:n.2667A>G
ENST00000299427.10:c.1647A>G	ENSP00000299427.6:p.Gly549=
ENST00000533371.5:c.918A>G	ENSP00000437066.1:p.Gly306=
ENST00000611494.4:c.1647A>G	ENSP00000484546.1:p.Gly549=
NM_000391.3:c.1647A>G	NP_000382.3:p.Gly549=
NM_000391.4:c.1647A>G MANE Select	NP_000382.3:p.Gly549=