Canonical Allele Identifier: CA129671
Gene: TMCO1 HGNC NCBI

Linked Data

dbSNP Id: rs397518448
MyVariant Identifiers: chr1:g.165738002_165738003del (hg19) chr1:g.165768765_165768766del (hg38)
PubMed: PMID:20018682
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.165768767_165768768del , CM000663.2:g.165768767_165768768del GRCh38
NC_000001.10:g.165738004_165738005del , CM000663.1:g.165738004_165738005del GRCh37
NC_000001.9:g.164004628_164004629del NCBI36
NG_032004.1:g.5158_5159del

Transcript Alleles

HGVS Amino-acid change
ENST00000367881.11:c.-14_-13del MANE Select ENSP00000356856.6:n.-14_-13del
ENST00000465705.4:c.-14_-13del ENSP00000463105.2:n.-14_-13del
ENST00000476143.7:c.-14_-13del ENSP00000464127.2:n.-14_-13del
ENST00000367881.9:c.140_141del ENSP00000356856.5:p.Arg47ThrfsTer?
ENST00000392129.10:c.-14_-13del ENSP00000375975.5:n.-14_-13del
ENST00000464650.5:c.-189_-188del ENSP00000463951.1:n.-189_-188del
ENST00000465705.3:c.140_141del ENSP00000463105.1:p.Arg47ThrfsTer?
ENST00000476143.6:c.124_125del
ENST00000481278.5:c.-250_-249del ENSP00000462300.1:n.-250_-249del
ENST00000580248.5:c.-182-496_-182-495del ENSP00000462588.1:n.-182-496_-182-495del
ENST00000612311.4:c.140_141del ENSP00000480514.1:p.Arg47ThrfsTer?
ENST00000628579.1:c.140_141del ENSP00000485789.1:p.Arg47ThrfsTer?
NM_001256164.1:c.140_141del NP_001243093.1:p.Arg47ThrfsTer18
NM_001256165.1:c.-250_-249del NP_001243094.1:n.-250_-249del
NM_019026.4:c.140_141del NP_061899.2:p.Arg47ThrfsTer?
NR_045818.1:n.158_159del
NM_001366129.1:c.-14_-13del NP_001353058.1:n.-14_-13del
NM_019026.5:c.-14_-13del NP_061899.3:n.-14_-13del
NM_019026.6:c.-14_-13del MANE Select NP_061899.3:n.-14_-13del
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