Canonical Allele Identifier: CA10223329
Gene: TRIOBP HGNC NCBI

Linked Data

ClinVar Variation Id: 3052622
ClinVar RCV Id: RCV003971394 RCV004369875
dbSNP Id: rs757070140
ExAC: 22:38109357 C / G
gnomAD v2: 22-38109357-C-G
gnomAD v3: 22-37713350-C-G
gnomAD v4: 22-37713350-C-G
MyVariant Identifiers: chr22:g.38109357C>G (hg19) chr22:g.37713350C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37713350C>G , CM000684.2:g.37713350C>G GRCh38
NC_000022.10:g.38109357C>G , CM000684.1:g.38109357C>G GRCh37
NC_000022.9:g.36439303C>G NCBI36
NG_012857.1:g.21363C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644935.1:c.395C>G MANE Select ENSP00000496394.1:p.Ser132Cys
ENST00000344404.10:c.255-2413C>G ENSP00000340312.6:n.255-2413C>G
ENST00000406386.7:c.395C>G ENSP00000384312.3:p.Ser132Cys
ENST00000455236.4:c.1352C>G ENSP00000477208.1:n.1352C>G
ENST00000492485.5:n.391-2413C>G
NM_001039141.2:c.395C>G NP_001034230.1:p.Ser132Cys
NM_001039141.3:c.395C>G MANE Select NP_001034230.1:p.Ser132Cys
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