Canonical Allele Identifier: CA247101
Gene: TRIOBP HGNC NCBI

Linked Data

ClinVar Variation Id: 156028
ClinVar RCV Id: RCV000144088 RCV000179801
dbSNP Id: rs140901235
ExAC: 22:38119378 C / A
gnomAD v2: 22-38119378-C-A
gnomAD v3: 22-37723371-C-A
gnomAD v4: 22-37723371-C-A
MyVariant Identifiers: chr22:g.38119378C>A (hg19) chr22:g.37723371C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37723371C>A , CM000684.2:g.37723371C>A GRCh38
NC_000022.10:g.38119378C>A , CM000684.1:g.38119378C>A GRCh37
NC_000022.9:g.36449324C>A NCBI36
NG_012857.1:g.31384C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644935.1:c.815C>A MANE Select ENSP00000496394.1:p.Thr272Lys
ENST00000344404.10:c.*298C>A ENSP00000340312.6:n.*298C>A
ENST00000406386.7:c.815C>A ENSP00000384312.3:p.Thr272Lys
ENST00000455236.4:c.1772C>A ENSP00000477208.1:n.1772C>A
ENST00000492485.5:n.749C>A
NM_001039141.2:c.815C>A NP_001034230.1:p.Thr272Lys
NM_001039141.3:c.815C>A MANE Select NP_001034230.1:p.Thr272Lys
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