Canonical Allele Identifier: CA5858599

Gene: TPP1

Linked Data

• ClinVar Variation Id: 567546
• ClinVar RCV Id: RCV001830489 ; RCV001367894
• dbSNP Id: rs755878872
• ExAC: 11:6635856 G / C
• gnomAD v2: 11-6635856-G-C
• gnomAD v3: 11-6614625-G-C
• gnomAD v4: 11-6614625-G-C
• MyVariant Identifiers: chr11:g.6635856G>C (hg19) ; chr11:g.6614625G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614625G>C , CM000673.2:g.6614625G>C	GRCh38
NC_000011.9:g.6635856G>C , CM000673.1:g.6635856G>C	GRCh37
NC_000011.8:g.6592432G>C	NCBI36
NG_008653.1:g.9837C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1499C>G	ENSP00000507321.1:p.Ser500Cys
ENST00000299427.12:c.1613C>G MANE Select	ENSP00000299427.6:p.Ser538Cys
ENST00000524611.2:n.652C>G
ENST00000524924.2:n.733C>G
ENST00000533371.6:c.884C>G	ENSP00000437066.1:p.Ser295Cys
ENST00000642892.1:c.884C>G	ENSP00000494165.1:p.Ser295Cys
ENST00000643342.1:c.686C>G
ENST00000643439.1:c.*1353C>G	ENSP00000495849.1:n.*1353C>G
ENST00000643479.1:n.1799C>G
ENST00000643516.1:c.1122C>G
ENST00000644218.1:c.1424C>G	ENSP00000493574.1:p.Ser475Cys
ENST00000644683.1:c.*1066C>G	ENSP00000494085.1:n.*1066C>G
ENST00000644810.1:c.1334C>G	ENSP00000495895.1:p.Ser445Cys
ENST00000644831.1:n.1789C>G
ENST00000644933.1:c.*479C>G	ENSP00000496133.1:n.*479C>G
ENST00000645285.1:c.*479C>G	ENSP00000495058.1:n.*479C>G
ENST00000645331.1:n.2818C>G
ENST00000645620.1:c.884C>G	ENSP00000493657.1:p.Ser295Cys
ENST00000646691.1:n.1500C>G
ENST00000646777.1:n.1946C>G
ENST00000647016.1:n.2093C>G
ENST00000647152.1:c.884C>G	ENSP00000495893.1:p.Ser295Cys
ENST00000647209.1:c.*1482C>G	ENSP00000495558.1:n.*1482C>G
ENST00000647346.1:n.2633C>G
ENST00000299427.10:c.1613C>G	ENSP00000299427.6:p.Ser538Cys
ENST00000533371.5:c.884C>G	ENSP00000437066.1:p.Ser295Cys
ENST00000611494.4:c.1613C>G	ENSP00000484546.1:p.Ser538Cys
NM_000391.3:c.1613C>G	NP_000382.3:p.Ser538Cys
NM_000391.4:c.1613C>G MANE Select	NP_000382.3:p.Ser538Cys