Canonical Allele Identifier: CA10223343
Gene: TRIOBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2575697
ClinVar RCV Id: RCV003321263
dbSNP Id: rs762955207
ExAC: 22:38109417 T / C
gnomAD v2: 22-38109417-T-C
gnomAD v3: 22-37713410-T-C
gnomAD v4: 22-37713410-T-C
MyVariant Identifiers: chr22:g.38109417T>C (hg19) chr22:g.37713410T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37713410T>C , CM000684.2:g.37713410T>C GRCh38
NC_000022.10:g.38109417T>C , CM000684.1:g.38109417T>C GRCh37
NC_000022.9:g.36439363T>C NCBI36
NG_012857.1:g.21423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644935.1:c.455T>C MANE Select ENSP00000496394.1:p.Val152Ala
ENST00000344404.10:c.255-2353T>C ENSP00000340312.6:n.255-2353T>C
ENST00000406386.7:c.455T>C ENSP00000384312.3:p.Val152Ala
ENST00000455236.4:c.1412T>C ENSP00000477208.1:n.1412T>C
ENST00000492485.5:n.391-2353T>C
NM_001039141.2:c.455T>C NP_001034230.1:p.Val152Ala
NM_001039141.3:c.455T>C MANE Select NP_001034230.1:p.Val152Ala
Search 100 bp 5'
Search 100 bp 3'